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Article

SCN8A encephalopathy: Mechanisms and models.

Epilepsia - 1 Dec 2019

Meisler Miriam H

Abstract excerpt

De novo mutations of the neuronal sodium channel SCN8A have been identified in approximately 2% of individuals with epileptic encephalopathy. These missense mutations alter the biophysical properties of sodium channel Nav1.6 in ways that lead to neuronal hyperexcitability. We generated two mouse models carrying patient mutations N1768D and R1872W to examine the effects on neuronal function in vivo. The...

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Identifiers

PMID: 31904118
DOI: 10.1111/epi.14703
PMCID: PMC6953611

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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