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Article

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

BMC neurology - 17 Jan 2024

Hebbar Malavika, Al-Taweel Nawaf, Gill Inderpal, Boelman Cyrus, Dean Richard A, Goodchild Samuel J, Mezeyova Janette, Shuart Noah Gregory, Johnson J P, Lee James, Michoulas Aspasia, Huh Linda L, Armstrong Linlea, Connolly Mary B, Demos Michelle K

Abstract excerpt

BACKGROUND: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia. METHODS: In this study, we describe clinical and genetic results on eight individuals from six families...

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Identifiers

PMID: 38233770
DOI: 10.1186/s12883-023-03478-y
PMCID: PMC10792783

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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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