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Article

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Brain : a journal of neurology - 1 Aug 2024

Berg Anne T, Thompson Christopher H, Myers Leah Schust, Anderson Erica, Evans Lindsey, Kaiser Ariela J E, Paltell Katherine, Nili Amanda N, DeKeyser Jean-Marc L, Abramova Tatiana V, Nesbitt Gerry, Egan Shawn M, Vanoye Carlos G, George Alfred L

Abstract excerpt

SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel Nav1.2 are rare, with clinically heterogeneous expressions that include epilepsy, autism and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relationship to channel function, 81 patients (36 female, 44%, median age 5.4 years) with 69 unique SCN2A...

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Identifiers

PMID: 38651838
DOI: 10.1093/brain/awae125
PMCID: PMC11292900

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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