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Article

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2018

Abstract excerpt

PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy patients and their unaffected parents to identify molecular diagnoses not provided in the initial diagnostic interpretation.MethodsWe compiled and analyzed exome sequence data from 54 genetically undiagnosed trios using a validated analysis pipeline. We evaluated the significance of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29121005
DOI: 10.1038/gim.2017.100
PMCID: PMC5823708

Genes

SCN8A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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