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Title: Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation
Authors: Benninger, Felix;Afawi, Zaid;Korczyn, Amos D;Oliver, Karen L;Pendziwiat, Manuela;Masayuki, Nakamura;Sano, Akira;Helbig, Ingo;Berkovic, Samuel F;Blatt, Ilan
Issue Date: Apr-2016
EDate: 2016-01-27
Citation: Epilepsia 2016; 57(4): 549-556
Abstract: 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 characterized by hyperkinetic movements, seizures, cognitive decline, neuropsychiatric symptoms, and acanthocytes on peripheral blood smear. This unique cohort of nine patients is characterized by seizures as a first and prominent symptom. In our patients, other features of ChAc appeared later, including tics, other movement disorders, dysarthria, and mild to moderate cognitive decline. SIGNIFICANCE: Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.
DOI: 10.1111/epi.13318
ORCID: 0000-0002-1121-9513
PubMed URL:
Type: Journal Article
Subjects: Chorea-acanthocytosis
Appears in Collections:Journal articles

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