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Article

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

19 Jul 2004

Abstract excerpt

Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with at least two forms of epilepsy, generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy of infancy (SMEI). We examined the functional properties of five SMEI mutations by using whole-cell patch-clamp analysis of heterologously expressed recombinant human SCN1A. Two...

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PMID: 15263074
DOI: 10.1073/pnas.0402482101

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Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancyPMID 15263074Read ↗

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