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Article

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.

Acta bio-medica : Atenei Parmensis - 21 Feb 2022

Keshri Swasti, Goel Anil Kumar, Shah Seema, Garg Ankit Kumar

Abstract excerpt

SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who...

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Identifiers

PMID: 35188110
DOI: 10.23750/abm.v92iS1.11781
PMCID: PMC10523044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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