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Genetics: Mutations in potassium channel KCNT1—a novel driver of epilepsy pathogenesis

✍ Scribed by Kingwell, Katie


Book ID
121792563
Publisher
Nature Publishing Group
Year
2012
Tongue
English
Weight
54 KB
Volume
8
Category
Article
ISSN
1759-4758

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Mutation of a potassium channel–related
✍ Patrick Van Bogaert; Regis Azizieh; Julie Désir; Alec Aeby; Linda De Meirleir; J 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 725 KB

## Abstract ## Objective 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. ## Methods We recorded the clinical course of the disease and the res