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Article

De novo mutations of voltage-gated sodium channel α <sub>II</sub> gene <i>SCN2A</i> in intractable epilepsies

28 Sept 2009

Abstract excerpt

BACKGROUND: Mutations of voltage-gated sodium channel alpha(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, which we previously reported in a patient with sporadic intractable childhood localization-related epilepsy, remains unique. To validate the involvement of de novo...

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Identifiers

PMID: 19786696
DOI: 10.1212/wnl.0b013e3181b9cebc

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