Abstracts of the 31st Annual Meeting of the Society for Neuropediatrics (Gesellschaft für Neuropädiatrie)

Abicht, A.

Genetic analysis of congenital myasthenic syndromes (CMS)

Congenital myasthenic syndromes – variability of symptoms, importance of a final diagnosis

Achenbach, H.

Rasmussen's encephalitis in a 6-year-old boy starting with a severe epileptic seizure, a prolonged postictal hemiparesis and an initially normal MRI of the brain

Ahrens, P.

The impact of genetic polymorphisms on the development of intraventricular haemorrhage, periventricular leucomalacia and hydrocephalus in very-low-birth-weight-infants

Alber, M.

Episodic encephalopathy with coma as the presenting symptom of Hashimoto's encephalopathy

Alberg, E.

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Albrecht, S.

Isolated acquired external ophthalmoplegia without presence of anti-GQ1b IgG antibody: a case report of Miller Fisher syndrome (MFS)

Amminger, P.

Children with autism: A pilot treatment trial with fishoil EPA/DHA. Evaluation of symptom change and changes in PUFAs after supplementation – a randomised double blind, placebo-controlled pilot study

Amthor, H.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Armbruster, S.

Case report: Congenital mirror movements in a 12-year-old girl. Clinical and neurophysiological findings

Development of transcallosal inhibition after focal magnetic stimulation in children: a longitudinal study

Aschoff, A.

Decompressive craniectomy and duraplasty in severe bacterial encephalitis

Attanasio, M.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Bahn, E.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Balmer, B.

Facial nerve palsy – an unusual complication after evacuation of a subdural haematoma or hygroma – report of two cases

Bani Hashemi, S.

Hypoxia-inducible factor 1 (HIF-1)-regulated vasoactive factors in rat brain: gene expression in relation to the degree of global hypoxia in vivo

Barben, J.

Myopathic sarcoidosis, an interdisciplinary challenge

Barkovich, A. J.

Malformations of cortical development: 2005

Bast, T.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Comparison of interictal EEG and MEG I: MEG detects a higher ratio of focal interictal epileptic discharges in sleep

Functional imaging: New approaches based on bioelectric measurements in focal epilepsy

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Bauer, K.

A rare differential diagnosis of severe neonatal muscular hypotonia with respiratory distress: Myotubular myopathy (MTM 1) with detection of a new complex mutation in myotubularin gene

Patterns of infantile postural asymmetry: A standardized video-based analysis

Bauer, M. F.

Biochemical diagnostics of mitochondrial encephalomyopathies

Bauerfeind, A.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Bauersfeld, U.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Baumeister, F. A. M.

A severe case of Aicardi syndrome with triple X

Subcutaneous microdialysis – a safe and minimal-invasive method for biochemical tissue monitoring in mitochondrial diseases

Biochemical therapy monitoring with subcutaneous microdialysis in mitochondrial encephalomyopathies

Changes in carnitine metabolism in children with intractable epilepsy under ketogenic diet, demonstrated by subcutaneous microdialysis

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Baumeister, S. K.

Genetic analysis of congenital myasthenic syndromes (CMS)

Baumgartner, S.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Bax, M.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Becker, C. M.

Ion channel alterations and epilepsy in mice and man

Becker, H.

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Becker, K.

Ion channel alterations and epilepsy in mice and man

Benninger, F.

Ictal heartrate changes in children and adolescents – comparison of temporal versus frontal lobe seizures

Bentele, K. H. P.

Neonatal Seizures

Berg, J.

Add-on therapy of Levetiracetam (LEV) in difficult-to-treat idiopathic focal epilepsies

Bergmann, H.

Patterns of infantile postural asymmetry: A standardized video-based analysis

Berner, B.

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Bernhard, M. K.

Prevalence of toe-walking in childhood

Bernius, P.

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Berweck, S.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Significant reduction of muscle diameter after Botulinum Toxin injection in gastrocnemius muscle in children with cerebral palsy

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Best, T.

X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8

Bevot, A.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Blank, R.

Test criteria of a screening-questionaire (M-ADL) for assessment of activities of daily living in 3 to 7 year old children with cerebral palsy

Blau, N.

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Blessing, K.

Recurrent axonal polyneuropathy with or without alterations of the basal ganglia – a new clinical manifestation of mitochondriopathy?

Blümcke, I.

Neuropathological spectrum of cortical dysplasia in children with severe focal epilepsies

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Boda, V.

Muscle eye brain disease – phenotype of glycosylation deficiency?

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

A rare differential diagnosis of severe neonatal muscular hypotonia with respiratory distress: Myotubular myopathy (MTM 1) with detection of a new complex mutation in myotubularin gene

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Böhles, H.

Muscle eye brain disease – phenotype of glycosylation deficiency?

Subacute metabolic stroke in two patients with propionic acidemia with fatal and good outcome

Böhme, C.

Spastic paraparesis caused by cerebrovascular neuroborreliosis in a 13-year-old boy

Böhmer, J.

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Bohn, R.

Follow up of very low birth weight (VLBW) premature infants: results and consequences

Boigner, H.

Difficult to treat temporal lobe seizures during human parvovirus B19 encephalitis in a 3 5/12-year-old immunocompetent girl – a case report

Boltshauser, E.

MRI pattern similar to Marchiafava-Bignami-Syndrome in an infant

Leukoencephalopathy, cerebral calcifications, and cysts – a separate entity

Recurrent axonal polyneuropathy with or without alterations of the basal ganglia – a new clinical manifestation of mitochondriopathy?

Facial nerve palsy – an unusual complication after evacuation of a subdural haematoma or hygroma – report of two cases

Bolzmann, A.

The development of low-risk preterm infants from infancy to early adulthood

Bonakdar, S.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Boor, R.

Comparison of interictal EEG and MEG I: MEG detects a higher ratio of focal interictal epileptic discharges in sleep

Bootsveld, K.

Tuberculous meningitis with thalamus infarction

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Borges, E.

Maturation of median nerve somatosensory evoked potentials (SEP) in healthy term and preterm infants

Borggraefe, I.

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Bosch, F.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Bosse, H.

West syndrome in identical twins with white spots

Bosse, K.

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Bötzel, K.

Case report: Congenital mirror movements in a 12-year-old girl. Clinical and neurophysiological findings

Brandl, U.

New antiepileptic drugs: A critical review

Braun, C.

Hemispheric dissociation between motor and sensory hand representations in congenital hemiparesis: TMS, fMRI, MEG

Breakefield, X.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Brehmer, U.

Facial nerve palsy – an unusual complication after evacuation of a subdural haematoma or hygroma – report of two cases

Brill, J.

Ion channel alterations and epilepsy in mice and man

Brockmann, K.

X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Hereditary spastic paraplegia with thin corpus callosum – childhood onset in two patients

Brodbeck, V.

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Feedback of slow cortical potentials – A therapeutical attempt for children?

Brown, S. C.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Brückner, H.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Brunner, M.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Brunner-Krainz, M.

Neuropsychiatric manifestations in juvenile systemic lupus erythematodes

MASA (mental retardation, aphasia, shuffling gait, adducted thumbs): Intronic mutation of L1CAM gene in male twins

Buchfelder, M.

Epilepsy Surgery

Buchholz, M.

Feedback of slow cortical potentials – A therapeutical attempt for children?

Bucsky, P.

Possible central nervous graft-versus-host reaction after stem cell transplantation by chronic myeloid leukemia

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Bührer, C.

Hyperoxia and neonatal brain injury

Busch, V.

A severe case of Aicardi syndrome with triple X

Subcutaneous microdialysis – a safe and minimal-invasive method for biochemical tissue monitoring in mitochondrial diseases

Biochemical therapy monitoring with subcutaneous microdialysis in mitochondrial encephalomyopathies

Changes in carnitine metabolism in children with intractable epilepsy under ketogenic diet, demonstrated by subcutaneous microdialysis

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Cedzich, C.

Experiences with hydrostatic valves in the treatment of hydrocephalus in infancy and childhood

Non-syndromic craniosynostoses – only an aesthetical problem?

Christ, W.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Church, A.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Cirak, S.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Claes, L.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Connelly, A.

Age-related changes of cerebral white and grey matter structures from childhood to adulthood using voxel-based morphometry

Crosby, A. H.

Hereditary spastic paraplegia with thin corpus callosum – childhood onset in two patients

Das, A. M.

Schimke immuno osseous dysplasia: pathophysiological investigations

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Debus, J.

Paraneoplastic stiff-person syndrome in a girl with a petrous bone chondrosarcoma

Debus, O.

West syndrome in identical twins with white spots

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Odontoid fracture after fall and following manipulation of the cervical spine – a case report -

Age of menarche in girls with epilepsy and antiepileptic therapy

Oral melatonin is a good medication for sleep induction for sleep eeg in children

Pyridoxal phosphat (vitamine B6) responsive West syndrome – follow up over 12 years

Sulthiame in childhood epilepsy

Paraneoplastic stiff-person syndrome in a girl with a petrous bone chondrosarcoma

De Jonghe, P.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Denecke, J.

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Denk, H.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Deußen, L.

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Deutsch, J.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

De Vivo, D. C.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Diers, A.

Spastic paraparesis caused by cerebrovascular neuroborreliosis in a 13-year-old boy

Distelmaier, F.

Isoniazid intoxication clinically mimicking encephalitis with status epilepticus

Dittrich, S.

Low CSF branched chain amino acids: Evidence for increased brain glutamate synthesis due to impaired mitochondrial function?

Muscle eye brain disease – phenotype of glycosylation deficiency?

Subacute metabolic stroke in two patients with propionic acidemia with fatal and good outcome

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Döhlemann, C.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Donnerstag, F.

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Dötsch, J.

Hypoxia-inducible factor 1 (HIF-1)-regulated vasoactive factors in rat brain: gene expression in relation to the degree of global hypoxia in vivo

Drasch, G.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Drechsler, M.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Dumitrescu, A.

X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8

Dumontier, J.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Eberstein, H. von

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Ebinger, F.

Decompressive craniectomy and duraplasty in severe bacterial encephalitis

Exteroceptive suppression of masseter muscle activity in children and adolescents with primary headaches

Ehrich, J.

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Eisele, U.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

El Mokhtari, N. E.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Engelstad, K.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Engler, M.

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Entenmann, A.

The impact of genetic polymorphisms on the development of intraventricular haemorrhage, periventricular leucomalacia and hydrocephalus in very-low-birth-weight-infants

Erb, M.

Presurgical motor fMRI in a 3-year-old child

Ernst, J. P.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Everts, R.

Cognitive functioning after stroke in childhood – a clinical study

Faber, A.

Hereditary spastic paraplegia with thin corpus callosum – childhood onset in two patients

Fahsold, R.

MASA (mental retardation, aphasia, shuffling gait, adducted thumbs): Intronic mutation of L1CAM gene in male twins

Faist, M.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Faldum, A.

Patterns of infantile postural asymmetry: A standardized video-based analysis

Farmand, M.

Non-syndromic craniosynostoses – only an aesthetical problem?

Fehrenbach, H.

Renal failure and generalized epilepsy as leading symptoms of a respiratory chain defect (complex 1)

Feil, B.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Parry-Romberg-Syndrom and Rasmussen-encephalitis: A case report

Felber, S.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Felderhoff-Mueser, U.

Hyperoxia and neonatal brain injury

Fennesz, P.

Executive functions of children and adolescents with temporal lobe epilepsy

Feucht, M.

Difficult to treat temporal lobe seizures during human parvovirus B19 encephalitis in a 3 5/12-year-old immunocompetent girl – a case report

Children with autism: A pilot treatment trial with fishoil EPA/DHA. Evaluation of symptom change and changes in PUFAs after supplementation – a randomised double blind, placebo-controlled pilot study

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Ictal heartrate changes in children and adolescents – comparison of temporal versus frontal lobe seizures

Executive functions of children and adolescents with temporal lobe epilepsy

Fiebelkorn, H.

Direct EEG changes during Vagus Nerve Stimulation comparing on and off time in children with pharmacoresistant epilepsy

Fiedler, B.

West syndrome in identical twins with white spots

Odontoid fracture after fall and following manipulation of the cervical spine – a case report -

Age of menarche in girls with epilepsy and antiepileptic therapy

Oral melatonin is a good medication for sleep induction for sleep eeg in children

Pyridoxal phosphat (vitamine B6) responsive West syndrome – follow up over 12 years

Sulthiame in childhood epilepsy

Paraneoplastic stiff-person syndrome in a girl with a petrous bone chondrosarcoma

Fietzek, U.

Feedback of slow cortical potentials – A therapeutical attempt for children?

Fischer, D.

A rare differential diagnosis of severe neonatal muscular hypotonia with respiratory distress: Myotubular myopathy (MTM 1) with detection of a new complex mutation in myotubularin gene

Fleischer, W.

Physiology and pathophysiology of polyols

Fliegauf, M.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Flodmark, O.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Foerster, S.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Forstner, R.

Leukoencephalopathy, cerebral calcifications, and cysts – a separate entity

Francke, A.

NF-walker and botulinum toxin therapy for children with spastic tetraparesis

Franz, S.

Epidemiological data on subacute sclerosing panencephalitis (SSPE) in Germany

Freilinger, M.

Difficult to treat temporal lobe seizures during human parvovirus B19 encephalitis in a 3 5/12-year-old immunocompetent girl – a case report

Freisinger, P.

Recurrent axonal polyneuropathy with or without alterations of the basal ganglia – a new clinical manifestation of mitochondriopathy?

Renal failure and generalized epilepsy as leading symptoms of a respiratory chain defect (complex 1)

Freudenberg, U.

Oral melatonin is a good medication for sleep induction for sleep eeg in children

Friedrich, H. J.

Direct EEG changes during Vagus Nerve Stimulation comparing on and off time in children with pharmacoresistant epilepsy

Fröhlich, T.

Peptic stricture of the esophagus in a patient with Cornelia de Lange syndrome, a typical complication

Fröhndrich, C.

Executive functions of children and adolescents with temporal lobe epilepsy

Gallistl, G.

Development of transcallosal inhibition after focal magnetic stimulation in children: a longitudinal study

Gärtner, J.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Highly skewed X-inactivation leading to an extremely mild variant of Rett syndrome with predominantly psychiatric problems

Functional consequence and clinical importance of distinct mutations in CLN2, the gene associated with classical late infantile ceroid lipofuscinosis

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Hereditary spastic paraplegia with thin corpus callosum – childhood onset in two patients

Gassmann, M.

Excessive erythrocytosis and non-erythropoietic functions of erythropoietin

Gebhardt, B.

Low CSF branched chain amino acids: Evidence for increased brain glutamate synthesis due to impaired mitochondrial function?

Muscle eye brain disease – phenotype of glycosylation deficiency?

Subacute metabolic stroke in two patients with propionic acidemia with fatal and good outcome

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Gempel, K.

Subcutaneous microdialysis – a safe and minimal-invasive method for biochemical tissue monitoring in mitochondrial diseases

Biochemical therapy monitoring with subcutaneous microdialysis in mitochondrial encephalomyopathies

Changes in carnitine metabolism in children with intractable epilepsy under ketogenic diet, demonstrated by subcutaneous microdialysis

Gerlach, R.

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

Gerloff, C.

Hemispheric dissociation between motor and sensory hand representations in congenital hemiparesis: TMS, fMRI, MEG

Gilitzer, C.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Gillessen-Kaesbach, G.

Two unrelated patients with Nicolaides-Baraitser syndrome

Giovannoni, G.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Gombakis, N.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Göpel, W.

The impact of genetic polymorphisms on the development of intraventricular haemorrhage, periventricular leucomalacia and hydrocephalus in very-low-birth-weight-infants

Granel, M.

Refractory status epilepticus after non-specific infection in 3 previously healthy children

Gratzki, N.

Aneurysm of the axillary artery in a child with tuberous sclerosis

Greess, H.

Peptic stricture of the esophagus in a patient with Cornelia de Lange syndrome, a typical complication

Greeß, H.

Aneurysm of the axillary artery in a child with tuberous sclerosis

Gresch, M.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Grodd, W.

Hemispheric dissociation between motor and sensory hand representations in congenital hemiparesis: TMS, fMRI, MEG

Presurgical motor fMRI in a 3-year-old child

Groeschel, S.

Age-related changes of cerebral white and grey matter structures from childhood to adulthood using voxel-based morphometry

Groninger, A.

Neurofibroma-derived Schwann cells hyperproliferate in response to progesterone

Gross, C.

Neonatal seizures, lissencephaly and abnormal genitalia – a case of XLAG-syndrome

Groß, D.

Patterns of infantile postural asymmetry: A standardized video-based analysis

Grubbauer, H. M.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Gruber-Sedlmayr, U.

Neuropsychiatric manifestations in juvenile systemic lupus erythematodes

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Gutsche, S.

Possible central nervous graft-versus-host reaction after stem cell transplantation by chronic myeloid leukemia

Haberl, C.

Transcranial magnetic and electric stimulation discriminates Bell's palsy from neuroborreliosis in children- a pilot trial

Case report: Congenital mirror movements in a 12-year-old girl. Clinical and neurophysiological findings

Development of transcallosal inhibition after focal magnetic stimulation in children: a longitudinal study

Haberlandt, E.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Hack, A.

A severe case of Aicardi syndrome with triple X

Subcutaneous microdialysis – a safe and minimal-invasive method for biochemical tissue monitoring in mitochondrial diseases

Biochemical therapy monitoring with subcutaneous microdialysis in mitochondrial encephalomyopathies

Changes in carnitine metabolism in children with intractable epilepsy under ketogenic diet, demonstrated by subcutaneous microdialysis

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Hahn, A.

Treatment of Varicella Zoster Virus (VZV)-associated vasculitis and stroke in a 5-year-old girl

Temporal lobe-tuberculoma with blindness as the presenting symptom

Hammer, J.

Swiss physicians' practices of long-term mechanical ventilatory support of children and adolescent with Duchenne muscular dystrophy

Hampe, J.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Hanefeld, F.

X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8

'Immigrant-Ricketts' – an important differential diagnosis in neonatal seizures

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Harms, E.

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Härtel, C.

The impact of genetic polymorphisms on the development of intraventricular haemorrhage, periventricular leucomalacia and hydrocephalus in very-low-birth-weight-infants

Rapid onset of cortical hemiatrophy and hippocampal sclerosis after prolonged febrile seizure

Encephalomyelitis disseminata in a child with severe outcome and atypical clinical findings – Neuromyelitis optica Devic or multiple sclerosis?

Hartmann, H.

Schimke immuno osseous dysplasia: pathophysiological investigations

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Hasilik, M.

Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters

Hasselmann, O.

Myopathic sarcoidosis, an interdisciplinary challenge

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome with neonatal onset-a rare and atypical occurrence

Häusler, M.

Herpesvirus infections: an important cause of pediatric hippocampal sclerosis

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Heils, A.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Heinen, F.

Transcranial magnetic and electric stimulation discriminates Bell's palsy from neuroborreliosis in children- a pilot trial

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Case report: Congenital mirror movements in a 12-year-old girl. Clinical and neurophysiological findings

Development of transcallosal inhibition after focal magnetic stimulation in children: a longitudinal study

Feedback of slow cortical potentials – A therapeutical attempt for children?

Significant reduction of muscle diameter after Botulinum Toxin injection in gastrocnemius muscle in children with cerebral palsy

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Heintz, N.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Hengvoss, S.

Test criteria of a screening-questionaire (M-ADL) for assessment of activities of daily living in 3 to 7 year old children with cerebral palsy

Henneke, M.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Hennies, H. C.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Herkenrath, P.

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Herrmann, R.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Hertzberg, C.

Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters

Heubner, G.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Hewett, J.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Hildebrandt, F.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Hildebrandt, M.

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Hinderlich, S.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Hinkel, G. K.

Two unrelated patients with Nicolaides-Baraitser syndrome

Högler, W.

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Hollmann, M.

Children with autism: A pilot treatment trial with fishoil EPA/DHA. Evaluation of symptom change and changes in PUFAs after supplementation – a randomised double blind, placebo-controlled pilot study

Holthausen, H.

Refractory status epilepticus after non-specific infection in 3 previously healthy children

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Presurgical motor fMRI in a 3-year-old child

Add-on therapy of Levetiracetam (LEV) in difficult-to-treat idiopathic focal epilepsies

Hölzle, E.

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Honegger, J.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Hübner, A.

Genetic analysis of congenital myasthenic syndromes (CMS)

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Huehne, K.

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Huemer, C.

Myopathic sarcoidosis, an interdisciplinary challenge

Huisman, T.

MRI pattern similar to Marchiafava-Bignami-Syndrome in an infant

Hunneman, D. H.

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Huppke, M.

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Huppke, P.

Highly skewed X-inactivation leading to an extremely mild variant of Rett syndrome with predominantly psychiatric problems

Hußmann, O.

Treatment of Varicella Zoster Virus (VZV)-associated vasculitis and stroke in a 5-year-old girl

Ikonomidou, H.

Hyperoxia and neonatal brain injury

Jansen, V.

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Jung, R.

Isolated acquired external ophthalmoplegia without presence of anti-GQ1b IgG antibody: a case report of Miller Fisher syndrome (MFS)

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Jung, T.

Patterns of infantile postural asymmetry: A standardized video-based analysis

Kafadar, I.

Treatment of Varicella Zoster Virus (VZV)-associated vasculitis and stroke in a 5-year-old girl

Kaindl, A.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Kaindl, A. M.

Hyperoxia and neonatal brain injury

Kalaydjieva, L.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Kapellari, K.

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Karall, D.

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Kaufmann, F.

Cognitive functioning after stroke in childhood – a clinical study

Keimer, R.

Stiripentol (Diacomit) treatment for child with myoclonic epilepsy in infancy resistant to conventional drugs

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Kellner, L.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Ketelsen, U. P.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Kierat, L.

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Kieslich, M.

Low CSF branched chain amino acids: Evidence for increased brain glutamate synthesis due to impaired mitochondrial function?

Muscle eye brain disease – phenotype of glycosylation deficiency?

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

A rare differential diagnosis of severe neonatal muscular hypotonia with respiratory distress: Myotubular myopathy (MTM 1) with detection of a new complex mutation in myotubularin gene

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Kindler, J.

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Kirschner, J.

Clinical trial 'immunosuppressive treatment in Duchenne muscular dystrophy' – update

Kirschstein, M.

Rasmussen's encephalitis in a 6-year-old boy starting with a severe epileptic seizure, a prolonged postictal hemiparesis and an initially normal MRI of the brain

Kispert, A.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Klein, A.

Facial nerve palsy – an unusual complication after evacuation of a subdural haematoma or hygroma – report of two cases

Kleines, M.

Herpesvirus infections: an important cause of pediatric hippocampal sclerosis

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Kleist-Retzow, J. C. von

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Klepper, J.

The ketogenic diet in intractable childhood epilepsy

Klier, C.

Children with autism: A pilot treatment trial with fishoil EPA/DHA. Evaluation of symptom change and changes in PUFAs after supplementation – a randomised double blind, placebo-controlled pilot study

Kluger, G.

Refractory status epilepticus after non-specific infection in 3 previously healthy children

Add-on therapy of Levetiracetam (LEV) in difficult-to-treat idiopathic focal epilepsies

Structured cooperation of neuropediatrics and pediatric psychiatry – why?

Klusmann, A.

Physiology and pathophysiology of polyols

Knerr, I.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Koch, A.

Aneurysm of the axillary artery in a child with tuberous sclerosis

Kohl, S.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Köhler, H.

Peptic stricture of the esophagus in a patient with Cornelia de Lange syndrome, a typical complication

Köhler, K.

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Köhring, J.

Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters

Köllmann, S.

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Kolodziejczyk, D.

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Kontopoulos, E.

Effectiveness of intermittent diazepam in febrile convulsions: A long term prospective controlled study

Korall, H.

Extended, selective neurometabolic screening for inborn errors of metabolism

Korenke, C.

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Korenke, G. C.

Tuberculous meningitis with thalamus infarction

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Korinthenberg, R.

Absence of growth hormone in a child with cat-eye syndrome

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Clinical trial 'immunosuppressive treatment in Duchenne muscular dystrophy' – update

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Neuropathic osteoarthropathy in Meningomyelocele (MMC): A case-report

Köster, H.

Tuberculous meningitis with thalamus infarction

Kozeis, N.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Kozich, C.

Isolated acquired external ophthalmoplegia without presence of anti-GQ1b IgG antibody: a case report of Miller Fisher syndrome (MFS)

Krägeloh-Mann, I.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Hemispheric dissociation between motor and sensory hand representations in congenital hemiparesis: TMS, fMRI, MEG

Bilateral lesions of thalamus and basal ganglia: A peculiar type of lesional epilepsy

Presurgical motor fMRI in a 3-year-old child

Pulsatile steroid treatment per os: A therapeutic option for children with pharmacoresistant epilepsies

Kramer, M.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Krämer, G.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Kratzsch, W.

Two unrelated patients with Nicolaides-Baraitser syndrome

Krawczak, M.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Kremer, P.

Decompressive craniectomy and duraplasty in severe bacterial encephalitis

Kreth, H. W.

Epidemiological data on subacute sclerosing panencephalitis (SSPE) in Germany

Kröhn, J.

Benign intracranial hypertension in childhood (Pseudotumor Cerebri=PTC) – experiences with 13 consecutive patients

Kroisel, P. M.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Kroll, M.

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Kröll, J.

'Immigrant-Ricketts' – an important differential diagnosis in neonatal seizures

Kröpfl, T.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Kruppa, E.

Follow up of very low birth weight (VLBW) premature infants: results and consequences

Kruse, B.

Treatment of Varicella Zoster Virus (VZV)-associated vasculitis and stroke in a 5-year-old girl

Temporal lobe-tuberculoma with blindness as the presenting symptom

Kuechler, A.

Two unrelated patients with Nicolaides-Baraitser syndrome

Kühr, J.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Künzle, C.

Myopathic sarcoidosis, an interdisciplinary challenge

Kurlemann, G.

West syndrome in identical twins with white spots

Odontoid fracture after fall and following manipulation of the cervical spine – a case report -

Age of menarche in girls with epilepsy and antiepileptic therapy

Oral melatonin is a good medication for sleep induction for sleep eeg in children

Pyridoxal phosphat (vitamine B6) responsive West syndrome – follow up over 12 years

Sulthiame in childhood epilepsy

Paraneoplastic stiff-person syndrome in a girl with a petrous bone chondrosarcoma

Kutschke, G.

Interactive functional Doppler sonography for evaluation of hemispheric dominance of language in infants

Kuwert, T.

PET and SPECT in the diagnostic workup of children with epilepsy

Laage-Gaupp, A.

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Laccone, F.

Highly skewed X-inactivation leading to an extremely mild variant of Rett syndrome with predominantly psychiatric problems

Lachmann, E.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Lang, W.

Aneurysm of the axillary artery in a child with tuberous sclerosis

Lauer, I.

Rapid onset of cortical hemiatrophy and hippocampal sclerosis after prolonged febrile seizure

Lauffer, H.

A late manifestation of connatal syphilis

lbaez-Tallon, I.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Lee, S. H.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Significant reduction of muscle diameter after Botulinum Toxin injection in gastrocnemius muscle in children with cerebral palsy

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Leidel, C.

Rapid onset of cortical hemiatrophy and hippocampal sclerosis after prolonged febrile seizure

Lenzen, K.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Liebhaber, G.

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Linder, M.

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Lochmueller, H.

Congenital myasthenic syndromes – variability of symptoms, importance of a final diagnosis

Lochmüller, H.

Genetic analysis of congenital myasthenic syndromes (CMS)

Lorenz, S.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Lücke, T.

Schimke immuno osseous dysplasia: pathophysiological investigations

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Ludwig, H.

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Mach, M.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Macharia, R.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Mache, C.

Neuropsychiatric manifestations in juvenile systemic lupus erythematodes

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Maier, E.

Highly skewed X-inactivation leading to an extremely mild variant of Rett syndrome with predominantly psychiatric problems

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Maier, O.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome with neonatal onset-a rare and atypical occurrence

Mainberger, F.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Mair, E.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Mall, V.

Absence of growth hormone in a child with cat-eye syndrome

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Neuropathic osteoarthropathy in Meningomyelocele (MMC): A case-report

Marquard, K.

Stiripentol (Diacomit) treatment for child with myoclonic epilepsy in infancy resistant to conventional drugs

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Marquardt, I.

Tuberculous meningitis with thalamus infarction

Marquardt, T.

Congenital disorders of glycosylation – a second patient of CDG type Id deficiency: different clinical phenotype, molecular analysis and prenatal diagnosis

Marschitz, I.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Martin, E.

MRI pattern similar to Marchiafava-Bignami-Syndrome in an infant

Marzi, I.

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Mattheisen, M.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Maurer-Fellbaum, U.

MASA (mental retardation, aphasia, shuffling gait, adducted thumbs): Intronic mutation of L1CAM gene in male twins

Mayatepek, E.

Neurofibroma-derived Schwann cells hyperproliferate in response to progesterone

Physiology and pathophysiology of polyols

Isoniazid intoxication clinically mimicking encephalitis with status epilepticus

Mayer, H.

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Ictal heartrate changes in children and adolescents – comparison of temporal versus frontal lobe seizures

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

McNamara, F.

Arousal related selfresuscitating reflexes, sighs and startles during airway occlusion in infants

Meinck, H. M.

Paraneoplastic stiff-person syndrome in a girl with a petrous bone chondrosarcoma

Meinecke, P.

Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters

Mennicke, K.

Phenotypic variants in children with subtle chromosomal rearrangements

Mentel, R.

A late manifestation of connatal syphilis

Merkenschlager, A.

Prevalence of toe-walking in childhood

Mertin, J.

Direct EEG changes during Vagus Nerve Stimulation comparing on and off time in children with pharmacoresistant epilepsy

Metzke, T.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Michaelis, U.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Mitzscherling, P.

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Moers, A. von

Spastic paraparesis caused by cerebrovascular neuroborreliosis in a 13-year-old boy

Möller-Hartmann, W.

Herpesvirus infections: an important cause of pediatric hippocampal sclerosis

Moser, A.

Encephalomyelitis disseminata in a child with severe outcome and atypical clinical findings – Neuromyelitis optica Devic or multiple sclerosis?

Mothersill, I. W.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Mueller, J.

Congenital myasthenic syndromes – variability of symptoms, importance of a final diagnosis

Mühe, C.

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Feedback of slow cortical potentials – A therapeutical attempt for children?

Muhle, H.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Müller, J. S.

Genetic analysis of congenital myasthenic syndromes (CMS)

Müller-Felber, W.

Transcranial magnetic and electric stimulation discriminates Bell's palsy from neuroborreliosis in children- a pilot trial

Muntoni, F.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Nauta, J.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Navarette, R.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Neubauer, B.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Treatment of Varicella Zoster Virus (VZV)-associated vasculitis and stroke in a 5-year-old girl

Neubauer, B. A.

Temporal lobe-tuberculoma with blindness as the presenting symptom

Neuberger, J.

Renal failure and generalized epilepsy as leading symptoms of a respiratory chain defect (complex 1)

Neumann, D.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Neumann, R.

Encephalomyelitis disseminata in a child with severe outcome and atypical clinical findings – Neuromyelitis optica Devic or multiple sclerosis?

Phenotypic variants in children with subtle chromosomal rearrangements

Nicolino, M.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

North, A.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Noterdaeme, M.

Structured cooperation of neuropediatrics and pediatric psychiatry – why?

Novak, S.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Nowakowski, A.

Botulinum toxin injections into psoas muscle – effect on leg lengthening in children with spastic hemiparesis

Nürnberg, P.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Offner, G.

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Olbrich, H.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Omran, H.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Opladen, T.

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Ostertag, P.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Oswald, S.

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Otto, E.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Paetau, R.

Comparison of interictal EEG and MEG I: MEG detects a higher ratio of focal interictal epileptic discharges in sleep

Pagenstecher, A.

Inhibition of ependymal flow during brain development: A novel mechanism for hydrocephalus formation

Pahs, G.

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Pantazis, G.

Parry-Romberg-Syndrom and Rasmussen-encephalitis: A case report

Panteliadis, C.

Effectiveness of intermittent diazepam in febrile convulsions: A long term prospective controlled study

Short-term, low-dose ACTH therapy in West syndrome

Parbel, S.

Low CSF branched chain amino acids: Evidence for increased brain glutamate synthesis due to impaired mitochondrial function?

Muscle eye brain disease – phenotype of glycosylation deficiency?

Subacute metabolic stroke in two patients with propionic acidemia with fatal and good outcome

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Pascher, B.

A severe case of Aicardi syndrome with triple X

Subcutaneous microdialysis – a safe and minimal-invasive method for biochemical tissue monitoring in mitochondrial diseases

Biochemical therapy monitoring with subcutaneous microdialysis in mitochondrial encephalomyopathies

Changes in carnitine metabolism in children with intractable epilepsy under ketogenic diet, demonstrated by subcutaneous microdialysis

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Paschke, E.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Pascual, J. M.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Patel, K.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Paul, A.

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Pavlidou, E.

Effectiveness of intermittent diazepam in febrile convulsions: A long term prospective controlled study

Pavlovic, J.

Cognitive functioning after stroke in childhood – a clinical study

Peirera, R.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Petek, E.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Petersen, D.

Rapid onset of cortical hemiatrophy and hippocampal sclerosis after prolonged febrile seizure

Encephalomyelitis disseminata in a child with severe outcome and atypical clinical findings – Neuromyelitis optica Devic or multiple sclerosis?

Pfander, T.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Philippi, H.

Patterns of infantile postural asymmetry: A standardized video-based analysis

Pieper, T.

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Pietz, J.

The development of low-risk preterm infants from infancy to early adulthood

Plattner, B.

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Plecko, B.

Breakage of the ERBB4-gene in a girl with reciprocal translocation t(1;2) (p22.3;q34) – Is there a relation to severe infantile epilepsy?

Neuropsychiatric manifestations in juvenile systemic lupus erythematodes

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

MASA (mental retardation, aphasia, shuffling gait, adducted thumbs): Intronic mutation of L1CAM gene in male twins

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Poggenburg, I.

Tuberculous meningitis with thalamus infarction

Parry-Romberg syndrome with focal epilepsy, progressive cerebral MRI alterations and CSF findings of a chronic inflammatory CNS disorder

Pohl, D.

'Immigrant-Ricketts' – an important differential diagnosis in neonatal seizures

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Pohl, M.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Porto, L.

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

Pöschl, J.

Decompressive craniectomy and duraplasty in severe bacterial encephalitis

Potschka, H.

Molecular and biochemical mechanisms of pharmacoresistance

Raikhman, P.

Muscle eye brain disease – phenotype of glycosylation deficiency?

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Raikman, P.

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Ramaekers, V.

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Ramantani, G.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Comparison of interictal EEG and MEG I: MEG detects a higher ratio of focal interictal epileptic discharges in sleep

Short-term, low-dose ACTH therapy in West syndrome

Ramelli, G. P.

Swiss physicians' practices of long-term mechanical ventilatory support of children and adolescent with Duchenne muscular dystrophy

Rascher, W.

Hypoxia-inducible factor 1 (HIF-1)-regulated vasoactive factors in rat brain: gene expression in relation to the degree of global hypoxia in vivo

Perinatal inflammation as major risk factor

Rating, D.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Comparison of interictal EEG and MEG I: MEG detects a higher ratio of focal interictal epileptic discharges in sleep

Decompressive craniectomy and duraplasty in severe bacterial encephalitis

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Rauscher, C.

Leukoencephalopathy, cerebral calcifications, and cysts – a separate entity

Rautenstrauss, B.

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Refetoff, S.

X-linked paroxysmal dyskinesia and severe global retardation caused by defective thyroid hormone transporter MCT8

Reichinnek, S.

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Reinicke, S.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Reiter, E.

Difficult to treat temporal lobe seizures during human parvovirus B19 encephalitis in a 3 5/12-year-old immunocompetent girl – a case report

Reitter, B.

Interactive functional Doppler sonography for evaluation of hemispheric dominance of language in infants

Renk, S.

Pyridoxal phosphat (vitamine B6) responsive West syndrome – follow up over 12 years

Renneberg, A.

Benign intracranial hypertension in childhood (Pseudotumor Cerebri=PTC) – experiences with 13 consecutive patients

Reuner, G.

The development of low-risk preterm infants from infancy to early adulthood

Riedel, J.

Rasmussen's encephalitis in a 6-year-old boy starting with a severe epileptic seizure, a prolonged postictal hemiparesis and an initially normal MRI of the brain

Riemann, E.

Efficacy of the ketogenic diet in children with pharmacoresistant epilepsies

Ries, M.

Renal failure and generalized epilepsy as leading symptoms of a respiratory chain defect (complex 1)

Ring, E.

Neuropsychiatric manifestations in juvenile systemic lupus erythematodes

Ritter, K.

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Rödl, S.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Rona, S.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Parry-Romberg-Syndrom and Rasmussen-encephalitis: A case report

Roos, R.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Rosenbaum, T.

Neurofibroma-derived Schwann cells hyperproliferate in response to progesterone

Isoniazid intoxication clinically mimicking encephalitis with status epilepticus

Rosewich, H.

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Rössler, J.

Neuropathic osteoarthropathy in Meningomyelocele (MMC): A case-report

Rostasy, K.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Psychiatric symptoms as leading symptoms in patients with cerebellar tumors

Rüdisser, K.

A severe case of Aicardi syndrome with triple X

Rudolf, G.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Ruf, S.

Pulsatile steroid treatment per os: A therapeutic option for children with pharmacoresistant epilepsies

Rupp, A.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Sälke-Kellermann, R. A.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Salomons, G. S.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Sander, T.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Sass, J. O.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Sasse, B.

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Sasse, M.

Cerebral imaging of CNS involvement in haemolytic uraemic syndrome

Sauter, S.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Sayer, J. A.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Schächtele, M.

Parry-Romberg-Syndrom and Rasmussen-encephalitis: A case report

Schäfer, K.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Schara, U.

Genetic analysis of congenital myasthenic syndromes (CMS)

Congenital myasthenic syndromes – variability of symptoms, importance of a final diagnosis

Scheffner, T.

Episodic encephalopathy with coma as the presenting symptom of Hashimoto's encephalopathy

Scheithauer, S.

Herpesvirus infections: an important cause of pediatric hippocampal sclerosis

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Scheld, M.

Significant reduction of muscle diameter after Botulinum Toxin injection in gastrocnemius muscle in children with cerebral palsy

Scherg, M.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Schessl, J.

Clinical trial 'immunosuppressive treatment in Duchenne muscular dystrophy' – update

Schlöglhofer, M.

Children with autism: A pilot treatment trial with fishoil EPA/DHA. Evaluation of symptom change and changes in PUFAs after supplementation – a randomised double blind, placebo-controlled pilot study

Schmitz, B.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Schneider, S.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Schnöbel, E.

Structured cooperation of neuropediatrics and pediatric psychiatry – why?

Scholl-Bürgi, S.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Pyridoxine-responsive seizures in a patient with infantile hypophosphatasia

Schöning, M.

Functional and morphological basics of early brain development

Schreiber, S.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Schreiner, A.

Topiramate in children and adolescents with epilepsy

Schröder, A. S.

Significant reduction of muscle diameter after Botulinum Toxin injection in gastrocnemius muscle in children with cerebral palsy

Schroeder, A. S.

Experiences with the Assisted Hand Assessment (AHA) in children with cerebral palsy under treatment with botulinum toxin A

Schroeder, S.

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Schropp, C.

Neonatal seizures, lissencephaly and abnormal genitalia – a case of XLAG-syndrome

Schuelke, M.

Molecular diagnostics of mitochondrial encephalomyopathies

Schulze-Bonhage, A.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Schulz-Schaeffer, W.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Schütz, B.

Spastic paraparesis caused by cerebrovascular neuroborreliosis in a 13-year-old boy

Schwerin, A.

NF-walker and botulinum toxin therapy for children with spastic tetraparesis

Botulinum toxin injections into psoas muscle – effect on leg lengthening in children with spastic hemiparesis

Schwieger, A.

Absence of growth hormone in a child with cat-eye syndrome

Seidel, U.

Cognitive functioning after stroke in childhood – a clinical study

Seidl, R.

Difficult to treat temporal lobe seizures during human parvovirus B19 encephalitis in a 3 5/12-year-old immunocompetent girl – a case report

Seiler-Kramer, B.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Seitz, A.

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis

Sellhaus, B.

Herpesvirus infections: an important cause of pediatric hippocampal sclerosis

Cerebral Epstein-Barr Virus (EBV) infection: From human disease to an animal model

Siebler, M.

Physiology and pathophysiology of polyols

Siegert, S.

TorsinA and B expression in the brain is detectable in human infants as young as four weeks old

Simbrunner, J.

Cooper concentration of liver tissue under cooper histidin therapy in a patient with Menkes disease

Simpson, M.

Hereditary spastic paraplegia with thin corpus callosum – childhood onset in two patients

Skladal, D.

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

Smitka, M.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Sperl, W.

Therapeutic options in mitochondrial encephalomyopathies

Sperner, J.

Rapid onset of cortical hemiatrophy and hippocampal sclerosis after prolonged febrile seizure

Direct EEG changes during Vagus Nerve Stimulation comparing on and off time in children with pharmacoresistant epilepsy

Encephalomyelitis disseminata in a child with severe outcome and atypical clinical findings – Neuromyelitis optica Devic or multiple sclerosis?

Phenotypic variants in children with subtle chromosomal rearrangements

Vagus nerve stimulation in pharmacoresistant epilepsy of childhood and adolescence

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Spiegler, J.

Possible central nervous graft-versus-host reaction after stem cell transplantation by chronic myeloid leukemia

Springer, S.

Structured cooperation of neuropediatrics and pediatric psychiatry – why?

Staudt, M.

Hemispheric dissociation between motor and sensory hand representations in congenital hemiparesis: TMS, fMRI, MEG

Presurgical motor fMRI in a 3-year-old child

Case report: Congenital mirror movements in a 12-year-old girl. Clinical and neurophysiological findings

Stein, S.

Evaluation of BTX/A therapy in children with CP: GMFM-88 vs. GMFM-66

Steinfeld, R.

Functional consequence and clinical importance of distinct mutations in CLN2, the gene associated with classical late infantile ceroid lipofuscinosis

Steinlin, M.

Cognitive functioning after stroke in childhood – a clinical study

Stephani, U.

Phenotype-genotype correlation and genetic epidemiology of epilepsy, febrile seizures and neonatal seizures in a defined nothern German region – “popgen-epilepsy“

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

High resolution micro-ultrasound in neuromuscular disorders

Pharmakoresistence – view of the clinician

Stettner, G.

Functional consequence and clinical importance of distinct mutations in CLN2, the gene associated with classical late infantile ceroid lipofuscinosis

Stoltenburg-Didinger, G.

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Strassburg, H. M.

Recurrent axonal polyneuropathy with or without alterations of the basal ganglia – a new clinical manifestation of mitochondriopathy?

Straßburg, H. M.

Neonatal seizures, lissencephaly and abnormal genitalia – a case of XLAG-syndrome

Strauch, K.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Strobl, K.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Stülpnagel Frfr von Oefele, C. von

Add-on therapy of Levetiracetam (LEV) in difficult-to-treat idiopathic focal epilepsies

Süß, P.

Botulinum toxin injections into psoas muscle – effect on leg lengthening in children with spastic hemiparesis

Tauer, U.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Feedback of slow cortical potentials – A therapeutical attempt for children?

Teflioudi, E.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Thach, B.

Arousal related selfresuscitating reflexes, sighs and startles during airway occlusion in infants

Thiele, H.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Thomas, W.

Neonatal seizures, lissencephaly and abnormal genitalia – a case of XLAG-syndrome

Thöny, B.

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Thyen, U.

Phenotypic variants in children with subtle chromosomal rearrangements

Tibussek, D.

Isoniazid intoxication clinically mimicking encephalitis with status epilepticus

Toelle, S. P.

MRI pattern similar to Marchiafava-Bignami-Syndrome in an infant

Töpfer, M.

Prevalence of toe-walking in childhood

Tournev, I.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Trautmann, U.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Trefz, F.

Episodic encephalopathy with coma as the presenting symptom of Hashimoto's encephalopathy

Trollmann, R.

Maturation of median nerve somatosensory evoked potentials (SEP) in healthy term and preterm infants

Hypoxia-inducible factor 1 (HIF-1)-regulated vasoactive factors in rat brain: gene expression in relation to the degree of global hypoxia in vivo

Isolated acquired external ophthalmoplegia without presence of anti-GQ1b IgG antibody: a case report of Miller Fisher syndrome (MFS)

Aneurysm of the axillary artery in a child with tuberous sclerosis

Perinatal hypoxic ischemic encephalopathy (HIE)

Editorial

Tydeman, C.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Tzitiridou, M.

Transcranial magnetic and electric stimulation discriminates Bell's palsy from neuroborreliosis in children- a pilot trial

Effectiveness of intermittent diazepam in febrile convulsions: A long term prospective controlled study

Short-term, low-dose ACTH therapy in West syndrome

Uhlenberg, B.

Cognitive functioning after stroke in childhood – a clinical study

Ungermann, U.

The development of low-risk preterm infants from infancy to early adulthood

Urak, L.

Behavior problems in patients with juvenile myoclonic epilepsy (JME)

Utsch, B.

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Utzig, N.

A late manifestation of connatal syphilis

Uyanik, G.

A severe case of Aicardi syndrome with triple X

Neonatal seizures, lissencephaly and abnormal genitalia – a case of XLAG-syndrome

van Baalen, A.

High resolution ultrasound of the neonatal brain

Follow up of very low birth weight (VLBW) premature infants: results and consequences

High resolution micro-ultrasound in neuromuscular disorders

Vardarinos, A.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Vargiami, E.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Verhoeven, N. M.

Clinical and molecular features of a boy with incomplete WAGR syndrome and succinic semialdehyde dehydrogenase deficiency

Versmold, H.

High resolution ultrasound of the neonatal brain

Follow up of very low birth weight (VLBW) premature infants: results and consequences

Vlaho, S.

Low CSF branched chain amino acids: Evidence for increased brain glutamate synthesis due to impaired mitochondrial function?

Muscle eye brain disease – phenotype of glycosylation deficiency?

Protein S-100B as a serum marker of brain damage in paediatric brain injury

Recurrent isolated cranial nerve palsy associated with Mycoplasma pneumoniae infection

Congenital spinal epidermoid cyst presenting as abscess of the spinal cord

A rare differential diagnosis of severe neonatal muscular hypotonia with respiratory distress: Myotubular myopathy (MTM 1) with detection of a new complex mutation in myotubularin gene

Increased CSF ratio of glutamine to branched chain amino acids in DOPA non responsive but gabapentin responsive dystonia

Vogler, L.

Prevalence of toe-walking in childhood

Voit, T.

An autosomal recessive distal myopathy with cardiac involvement due to missense mutations in the kinase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene

Völkl-Kernstock, S.

Executive functions of children and adolescents with temporal lobe epilepsy

Vollmer, B.

Lesions of the basal ganglia and thalamus – the most frequent cause of cerebral palsy in term infants

Age-related changes of cerebral white and grey matter structures from childhood to adulthood using voxel-based morphometry

von der Hagen, M.

Cardiac and motor improvement with enzyme replacement therapy in a patient with infantile-onset Pompe disease

Acute reversible muscle weakness in two infants with limb girdle muscular dystrophy (LGMD) 2I and identification of a novel missense mutation in the FKRP gene

Voss, H. von

Test criteria of a screening-questionaire (M-ADL) for assessment of activities of daily living in 3 to 7 year old children with cerebral palsy

Vrbova, G.

Lack of myostatin in mice results in excessive muscle but impaired force generation, tubular aggregates and alterations in fibre type profile

Vry, J.

Effects on walking performance of a ten-day treadmill training scheme in children with cerebral palsy

Wagner, H. J.

Association of Epstein-Barr virus (EBV) infection with multiple sclerosis in pediatric patients

Waibel, P.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome with neonatal onset-a rare and atypical occurrence

Waldhaus, A.

Physiology and pathophysiology of polyols

Walter, M.

Renal failure and generalized epilepsy as leading symptoms of a respiratory chain defect (complex 1)

Development of transcallosal inhibition after focal magnetic stimulation in children: a longitudinal study

Walther, M.

Neuropathic osteoarthropathy in Meningomyelocele (MMC): A case-report

Waltz, S.

Genomewide linkage scan of the photoparoxysmal response (PPR) and exploration of its relationship to Idiopathic Generalised Epilepsies (IGE)

Wanders, R. J. A.

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Wang, D.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Warnke, A.

Highly skewed X-inactivation leading to an extremely mild variant of Rett syndrome with predominantly psychiatric problems

Waterham, H. R.

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Weber, G.

Positive cognitive profile of Lamotrigin – Do physicians and parents agree?

Weber, R.

Loss of consciousness, “dysrhythmic EEG“, epilepsy in the familial history – but no epilepsy!

Wegner, M.

A late manifestation of connatal syphilis

Weiß, P.

NF-walker and botulinum toxin therapy for children with spastic tetraparesis

Weissbrich, B.

Epidemiological data on subacute sclerosing panencephalitis (SSPE) in Germany

Weissert, M.

Hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome with neonatal onset-a rare and atypical occurrence

Wendel, U.

Physiology and pathophysiology of polyols

Wenzel, D.

Maturation of median nerve somatosensory evoked potentials (SEP) in healthy term and preterm infants

Hypoxia-inducible factor 1 (HIF-1)-regulated vasoactive factors in rat brain: gene expression in relation to the degree of global hypoxia in vivo

Isolated acquired external ophthalmoplegia without presence of anti-GQ1b IgG antibody: a case report of Miller Fisher syndrome (MFS)

Editorial

Wiegand, G.

High resolution micro-ultrasound in neuromuscular disorders

Wiemer-Kruel, A.

High-dose, pulsatile steroid-therapy in refractory epilepsies of infancy

Wiersbitzky, H.

A late manifestation of connatal syphilis

Wiesnet, A.

Experiences with hydrostatic valves in the treatment of hydrocephalus in infancy and childhood

Wilichowski, E.

Mitochondrial encephalomyopathies: clinical and neuroradiological spectrum

Wilken, B.

'Immigrant-Ricketts' – an important differential diagnosis in neonatal seizures

Winkler, P.

Neuropathological spectrum of focal cortical dysplasia in children with severe focal epilepsies

Winner, U.

Neurofibroma-derived Schwann cells hyperproliferate in response to progesterone

Wissinger, B.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Wolff, M.

Bilateral lesions of thalamus and basal ganglia: A peculiar type of lesional epilepsy

Pulsatile steroid treatment per os: A therapeutic option for children with pharmacoresistant epilepsies

Wörle, H.

Stiripentol (Diacomit) treatment for child with myoclonic epilepsy in infancy resistant to conventional drugs

Giant Axonal Neuropathy – a neurodegenerative disorder – a novel mutation in the GAN-Gen

Wulbrand, H.

Arousal related selfresuscitating reflexes, sighs and startles during airway occlusion in infants

Wullinger, S.

Expression of procollagen I, III und IV and their regulators in muscles of children with Cerebral Palsy (CP)

Yang, H.

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

Zafeiriou, D.

Abnormal eye movements and photophobia in 2 siblings: achromatopsia type 2 due to mutation of the CNGA3 gene

Zentner, J.

Seven years of epilepsy surgery in Freiburg: Results of surgery in 100 children 1–16 years of age

Zilker, T.

Neurological and psychiatric symptoms due to mercury intoxication in a family from Iraq

Zobel, G.

Severe autoimmune chorea with positive antibasalganglia antibodies (ABGA) following herpesencephalitis: Treatment with plasmapheresis and corticosteroids

Zürcher, C.

Bilateral lesions of thalamus and basal ganglia: A peculiar type of lesional epilepsy

Özkan, Ö

Comparison of interictal EEG and MEG II: Loss of deep cortical fissures in polymicrogyria requires simultaneous EEG with MEG source analysis