DOI: 10.1055/s-00000041

Neuropediatrics

Issue 06 · Volume 49 · December 2018 DOI: 10.1055/s-008-41843

Review Article

357
Verhalen, Brandy; Arnold, Susan; Minassian, Berge A.: Lafora Disease: A Review of Molecular Mechanisms and Pathology

Original Article

363
369
Almomen, Momen; Sinclair, Graham; Stockler-Ipsiroglu, Sylvia G.; Horvath, Gabriella A.: Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis
373
Kovacs-Nagy, Reka; Morin, Gilles; Nouri, Maria Al; Brandau, Oliver; Saadi, Nebal Waill; Nouri, Mohammed A.; van den Broek, Florence; Prokisch, Holger; Mayr, Johannes A.; Wortmann, Saskia B.: HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients
379
Fazeli, Walid; Becker, Kerstin; Herkenrath, Peter; Düchting, Christoph; Körber, Friederike; Landgraf, Pablo; Nürnberg, Peter; Altmüller, Janine; Thiele, Holger; Koy, Anne; Liebau, Max C.; Simon, Thorsten; Dötsch, Jörg; Cirak, Sebahattin: Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development
385
Jacquet, Coralie; Boetto, Sergio; Sevely, Annick; Sol, Jean-Christophe; Chaix, Yves; Cheuret, Emmanuel: Monitoring Criteria of Intracranial Lesions in Children Post Mild or Moderate Head Trauma

Short Communication

392
Yeom, Jung Sook; Cho, Young Hye; Koo, Chung Mo; Jun, Jin Su; Park, Ji Sook; Park, Eun Sil; Seo, Ji-Hyun; Lim, Jae-Young; Woo, Hyang-Ok; Youn, Hee-Shang: A Pilot Study Evaluating Cerebral Vasculitis in Kawasaki's Disease
397
Ribstein, C.; Courteix, D.; Rabiau, N.; Bommelaer, C.; Bourdeau, Y.; Pereira, B.; Sarret, Catherine: Secondary Bone Defect in Neuromuscular Diseases in Childhood: A Longitudinal “Muscle-Bone Unit” Analysis
401
Westphal, Dominik Sebastian; Riedhammer, Korbinian Maria; Kovacs-Nagy, Reka; Meitinger, Thomas; Hoefele, Julia; Wagner, Matias: A De Novo Missense Variant in POU3F2 Identified in a Child with Global Developmental Delay
405
Agarwal, Vivek; Vyas, Sameer; Dhawan, Sumeet R.; Sankhyan, Naveen: Isolated Congenital Absence of Cranial Nerves: Report of Two Cases
408
Itzep, Débora; Itzep, Débora; Martínez-Monseny, Antonio F; Martínez-Monseny, Antonio F; Bolasell, Mercè; Bolasell, Mercè; Cuadras, Daniel; Cuadras, Daniel; Velázquez-Fragua, Ramón; Velázquez-Fragua, Ramón; Gutierrez-Solana, Luis G.; Gutierrez-Solana, Luis G.; Macaya, Alfons; Macaya, Alfons; Pérez-Dueñas, Belén; Pérez-Dueñas, Belén; Serrano, Mercedes; Serrano, Mercedes; CDG Spanish-Consortium; CDG Spanish-Consortium; Aguilera-Albesa, Sergio; Aguilera-Albesa, Sergio; López, Laura; López, Laura; Felipe, Ana; Felipe, Ana; Miranda, Mª Concepción; Miranda, Mª Concepción; Carratala, Francisco; Carratala, Francisco; Yoldi, M Eugenia; Yoldi, M Eugenia; López-Laso, Eduardo; López-Laso, Eduardo; Sierra-Córcoles, Mª Concepción; Sierra-Córcoles, Mª Concepción; Sebastián-García, Irma; Sebastián-García, Irma; Aísa, Eduardo; Aísa, Eduardo; Cancho-Candela, Ramon; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carrasco-Marina, M Llanos; Couce, María L.; Couce, María L.; Roldán, Susana; Roldán, Susana; Montero, Raquel; Montero, Raquel; Artuch, Rafael; Artuch, Rafael; Muchart, Jordi; Muchart, Jordi; Morales, Montserrat; Morales, Montserrat; Pérez-Cerdá, Celia; Pérez-Cerdá, Celia; Pérez, Belén; Pérez, Belén: Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

Letter to the Editor

417
Guliyeva, Ulviyya; Okur, Ilyas; Dulac, Olivier; Khalilov, Oktay; Guliyeva, Sugra: Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy
419
Spagnoli, Carlotta; Frattini, Daniele; Salerno, Grazia Gabriella; Fusco, Carlo: RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient

Images in Neuropediatrics

420
Jauhari, Prashant; Saini, Lokesh; Chakrabarty, Biswaroop; Kumar, Atin; Gulati, Sheffali: Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes
422
Dhawan, Sumeet R.; Sood, Abhinandan; Suthar, Renu; Vyas, Sameer; Sankhyan, Naveen: Hyperdense Middle Cerebral Artery in a Boy with Road Traffic Accident

Book Review