Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene.We recorded the clinical course of the disease and the response to drug therapy, whereas carefully...

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Autores principales: Patrick Van Bogaert, Régis Azizieh, Julie Désir, Alec Aeby, Linda De Meırleır, Jean‐François Laes, Florence Christiaens, Marc Abramowicz
Formato: Artigo
Lenguaje:inglés
Publicado: 2007
Acceso en línea:https://doi.org/10.1002/ana.21121
https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ana.21121
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