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Article

Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.

Epilepsia - 1 Dec 2019

Gardella Elena, Møller Rikke S

Abstract excerpt

Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE). However, recent studies have shown that SCN8A variants can be associated with a broader phenotypic spectrum, including the following: (1) Patients with early onset, severe DEE, developing severe cognitive and motor regression, pyramidal/extrapyramidal signs, and cortical blindness. Severe...

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Identifiers

PMID: 31904124
DOI: 10.1111/epi.16319

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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