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Article

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Epilepsia - 1 Apr 2016

Benninger Felix, Afawi Zaid, Korczyn Amos D, Oliver Karen L, Pendziwiat Manuela, Nakamura Masayuki, Sano Akira, Helbig Ingo, Berkovic Samuel F, Blatt Ilan

Abstract excerpt

OBJECTIVE: The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. METHODS: Genetic test results, clinical description, magnetic resonance imaging (MRI), and electroencephalography (EEG), as well as laboratory results are summarized. RESULTS: ChAc is a rare genetic disorder...

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PMID: 26813249
DOI: 10.1111/epi.13318

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