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Article

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

Annals of neurology - 1 Jun 2007

Van Bogaert Patrick, Azizieh Regis, Désir Julie, Aeby Alec, De Meirleir Linda, Laes Jean-François, Christiaens Florence, Abramowicz Marc J

Abstract excerpt

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 response to drug therapy, whereas carefully excluding known causes of progressive myoclonic epilepsy. We then linked the disease by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17455289
DOI: 10.1002/ana.21121

Genes

KCTD7

Provenance

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