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Article

Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.

Clinical genetics - 1 Sept 2025

Lu Po-Nien, Melton Chandler, Dupont Barbara, Jones Julie R, Abidi Fatima, Rose Aubrey, Patterson Wesley G, Lyons Michael J, Flanagan-Steet Heather

Abstract excerpt

SPTAN1 mutations have been reported in association with autosomal dominant early infantile epileptic encephalopathy 5. Individuals present with early-onset seizures and profound intellectual disability. Recent reports suggest a wider spectrum with later-onset seizures and milder developmental delay. Here we describe two patients with loss-of-function variants in SPTAN1. One patient has ataxia and mild...

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Identifiers

PMID: 39988451
DOI: 10.1111/cge.14732

Genes

SPTAN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.PMID 39988451Read ↗

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Expanding the genotype-phenotype spectrum in SCN8A-related disordersSemantic proximity Read ↗

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read ↗

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