Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy-Reference-Cited by-同舟云学术

Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy

Published:2019-01-25 Issue:8 Volume:61 Page:891-898
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Gataullina Svetlana¹²³^ORCID,Bienvenu Thierry⁴⁵,Nabbout Rima⁶^ORCID,Huberfeld Gilles²⁷⁸,Dulac Olivier²⁹^ORCID

Affiliation:

1. Service d' Explorations Fonctionnelles multidisciplinaires Hôpital Antoine Béclère AP‐HP Clamart France

2. Inserm U1129, Infantile Epilepsies and Brain Plasticity CEA Gif/Yvette Pôle de Recherche et d'Enseignement Supérieur Sorbonne Paris Cité Paris Descartes University Paris France

3. Service de Pédiatrie Centre Hospitalier Intercommunal Montreuil France

4. Biochemistry and Molecular Genetics Laboratory Hôpital Cochin Paris Centre University Group Paris France

5. Institut Cochin Inserm U1016 Paris Descartes University Paris France

6. Centre de Reference Épilepsies Rares Necker‐Enfants Malades Hospital Paris France

7. Clinical Neurophysiology Department Pitié‐Salpêtrière Hospital Sorbone University, AP‐HP Paris France

8. Neuroglial Interactions in Cerebral Pathophysiology Center for Interdisciplinary Research in Biology Collège de France CNR UMR 7421 Inserm U1050 Labex MemolifePSL Research University Paris France

9. AdPueriVitam Antony France

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14152

Reference66 articles.

1. A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

2. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression

3. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

4. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model forSTXBP1-related epileptic encephalopathy

5. De novo KCNT 1 mutations in early‐onset epileptic encephalopathy

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