Neuropediatrics

Issue 06 · December 2016

Recommend Journal

Review Article
349
Kevelam, Sietske H.; Steenweg, Marjan E.; Srivastava, Siddharth; Helman, Guy; Naidu, Sakkubai; Schiffmann, Raphael; Blaser, Susan; Vanderver, Adeline; Wolf, Nicole I.; van der Knaap, Marjo S.:
Update on Leukodystrophies: A Historical Perspective and Adapted Definition

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355
Livingston, John H.; Crow, Yanick J.:
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond
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Original Article
361
Lilles, Stella; Talvik, Inga; Noormets, Klari; Vaher, Ulvi; Õunap, Katrin; Reimand, Tiia; Sander, Valentin; Ilves, Pilvi; Talvik, Tiina:
CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

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Supplementary Material

Supplementary Figures (PDF) (opens in new window)

Supplementary Table (PDF) (opens in new window)
368
Nilsson, Gill; Fernell, Elisabeth; Arvidsson, Thomas; Neville, Brian; Olsson, Ingrid; Gillberg, Christopher:
Prevalence of Febrile Seizures, Epilepsy, and Other Paroxysmal Attacks in a Swedish Cohort of 4-Year-Old Children

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374
Stehling, Florian; Alfen, Katharina; Dohna-Schwake, Christian; Mellies, Uwe:
Respiratory Muscle Weakness and Respiratory Failure in Pediatric Neuromuscular Disorders: The Value of Noninvasive Determined Tension-Time Index

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Supplementary Material

Supplementary Figures and Tables (PDF) (opens in new window)
380
Kacar Bayram, Ayşe; Per, Hüseyin; Ismailoğullari, Sevda; Canpolat, Mehmet; Gumus, Hakan; Aksu, Murat:
Efficiency of a Combination of Pharmacological Treatment and Nondrug Interventions in Childhood Narcolepsy

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388
Stahlmann, Nele; Eisemann, Nora; Thyen, Ute; Herting, Egbert; Rapp, Marion:
Long-Term Health Outcomes and Health-Related Quality of Life in Adolescents from a Cohort of Extremely Premature Infants Born at Less Than 27 Weeks of Gestation in Northern Germany

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Short Communication
399
Gataullina, Svetlana; Lauer-Zillhardt, Julia; Kaminska, Anna; Galmiche-Rolland, Louise; Bahi-Buisson, Nadia; Pontoizeau, Clément; Ottolenghi, Chris; Dulac, Olivier; Fallet-Bianco, Catherine:
Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

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404
Parodi, Alessandro; Ramenghi, Luca A.; Malova, Mariya; Tortora, Domenico; Severino, Mariasavina; Morana, Giovanni; Rossi, Andrea:
Crossed Pontine Hemiatrophy Associated with Unilateral Cerebellar Hemorrhage in Premature Infants

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Letter to the Editor
408
Nyhan, William L.; Gangoiti, Jon A.:
Hereditary Orotic Aciduria and the Excretion of Orotidine

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Images in Neuropediatrics
410
Poryo, Martin; Meyer, Sascha; Eymann, Regina; Yilmaz, Umut; Nemat, Sogand; Rohrer, Tilman:
Clinical Images: A Cloudy Skull—Hypophosphatasia as Reason for Copper-Beaten Skull

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Book Review
412
Kuenzle, Christoph:
Developmental Assessment

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413
Boltshauser, Eugen:
Neuroendocrine Disorders in Children

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Neuropediatrics

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

Prevalence of Febrile Seizures, Epilepsy, and Other Paroxysmal Attacks in a Swedish Cohort of 4-Year-Old Children

Respiratory Muscle Weakness and Respiratory Failure in Pediatric Neuromuscular Disorders: The Value of Noninvasive Determined Tension-Time Index

Efficiency of a Combination of Pharmacological Treatment and Nondrug Interventions in Childhood Narcolepsy

Long-Term Health Outcomes and Health-Related Quality of Life in Adolescents from a Cohort of Extremely Premature Infants Born at Less Than 27 Weeks of Gestation in Northern Germany

Epileptic Phenotype of Two Siblings with Asparagine Synthesis Deficiency Mimics Neonatal Pyridoxine-Dependent Epilepsy

Crossed Pontine Hemiatrophy Associated with Unilateral Cerebellar Hemorrhage in Premature Infants

Hereditary Orotic Aciduria and the Excretion of Orotidine

Clinical Images: A Cloudy Skull—Hypophosphatasia as Reason for Copper-Beaten Skull

Developmental Assessment

Neuroendocrine Disorders in Children