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Article

Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.

Epilepsia - 1 Dec 2023

Chung Kyung Mi, Hack Joshua, Andrews Jennifer, Galindo-Kelly Maureen, Schreiber John, Watkins Joseph, Hammer Michael F

Abstract excerpt

OBJECTIVE: Genetic variants in the SCN8A gene underlie a wide spectrum of neurodevelopmental phenotypes including several distinct seizure types and a host of comorbidities. One of the major challenges facing clinicians and researchers alike is to identify genotype-phenotype (G-P) correlations that may improve prognosis, guide treatment decisions, and lead to precision medicine approaches. METHODS: We...

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Source

Identifiers

PMID: 37585367
DOI: 10.1111/epi.17747

Provenance

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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