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Article

Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.

Biochimica et biophysica acta. Molecular basis of disease - 1 Dec 2020

Solé Laura, Wagnon Jacy L, Tamkun Michael M

Abstract excerpt

The voltage-gated sodium channel Nav1.6 is associated with more than 300 cases of epileptic encephalopathy. Nav1.6 epilepsy-causing mutations are spread over the entire channel's structure and only 10% of mutations have been characterized at the molecular level, with most of them being gain of function mutations. In this study, we analyzed three previously uncharacterized Nav1.6 epilepsy-causing mutations: G214D,...

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Identifiers

PMID: 32916281
DOI: 10.1016/j.bbadis.2020.165959
PMCID: PMC7680399

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