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Article

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.

Epilepsia - 1 Aug 2005

Al-Asmi Abdullah, Jansen An C, Badhwar AmanPreet, Dubeau François, Tampieri Donatella, Shustik Chaim, Mercho Suha, Savard Ghislaine, Dobson-Stone Carol, Monaco Anthony P, Andermann Frederick, Andermann Eva

Abstract excerpt

PURPOSE: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc families in which patients presented with temporal lobe epilepsy. METHODS: Detailed medical and family histories were...

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Source

Identifiers

PMID: 16060937
DOI: 10.1111/j.1528-1167.2005.65804.x

Genes

GNA14

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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