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Article

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Epilepsy research - 1 Jan 2017

Butler Kameryn M, da Silva Cristina, Shafir Yuval, Weisfeld-Adams James D, Alexander John J, Hegde Madhuri, Escayg Andrew

Abstract excerpt

OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory. METHODS: Sequence data from 275 epilepsy panels screened by...

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Identifiers

PMID: 27875746
DOI: 10.1016/j.eplepsyres.2016.11.002
PMCID: PMC5321682

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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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