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Title: Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation
Austin Authors: Benninger, Felix;Afawi, Zaid;Korczyn, Amos D;Oliver, Karen L;Pendziwiat, Manuela;Masayuki, Nakamura;Sano, Akira;Helbig, Ingo;Berkovic, Samuel F ;Blatt, Ilan
Affiliation: Austin Health, Heidelberg, Victoria, Australia
Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Department of Neurology, Tel Aviv University, Tel Aviv, Israel
Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia
Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan
Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, PA, USA
Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel
Issue Date: Apr-2016
Date: 2016-01-27
Publication information: 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
Journal: Epilepsia
PubMed URL:
Type: Journal Article
Subjects: Chorea-acanthocytosis
Appears in Collections:Journal articles

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