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Article

Distinct functional alterations in SCN8A epilepsy mutant channels

12 Nov 2019

Abstract excerpt

KEY POINTS: Mutations in the SCN8A gene cause early infantile epileptic encephalopathy. We characterize a new epilepsy-related SCN8A mutation, R850Q, in the human SCN8A channel and present gain-of-function properties of the mutant channel. Systematic comparison of R850Q with three other SCN8A epilepsy mutations, T761I, R1617Q and R1872Q, identifies one common dysfunction in resurgent current, although these...

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PMID: 31715021
DOI: 10.1113/jp278952

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