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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizu...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Claes, Lieve, Del-Favero, Jurgen, Ceulemans, Berten, Lagae, Lieven, Van Broeckhoven, Christine, De Jonghe, Peter
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2001
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226119/
https://ncbi.nlm.nih.gov/pubmed/11359211
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