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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

✍ Scribed by Charlier, Carole; Singh, Nanda A.; Ryan, Stephen G.; Lewis, Tracey B.; Reus, Bonnie E.; Leach, Robin J.; Leppert, Mark

Book ID
109915008
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
566 KB
Volume
18
Category
Article
ISSN
1061-4036

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Mutation of a potassium channel–related
Mutation of a potassium channel–related gene in progressive myoclonic epilepsy
✍ Patrick Van Bogaert; Regis Azizieh; Julie DΓ©sir; Alec Aeby; Linda De Meirleir; J πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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