title: Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.
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.
  
  
  CONCLUSIONS
  Patients with chorea-acanthocytosis carrying the described rare mutation can present with focal, treatment-resistant seizures.
authors.affiliation: Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
authors.forename: Felix
authors.initials: F
authors.lastname: Benninger
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Zaid
authors.initials: Z
authors.lastname: Afawi
authors.affiliation: Department of Neurology, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Amos D
authors.initials: AD
authors.lastname: Korczyn
authors.affiliation: Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
authors.forename: Karen L
authors.initials: KL
authors.lastname: Oliver
authors.affiliation: Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.
authors.forename: Manuela
authors.initials: M
authors.lastname: Pendziwiat
authors.affiliation: Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamura
authors.affiliation: Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Sakuragaoka, Kagoshima, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Sano
authors.affiliation: Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany.|Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, Pennsylvania, U.S.A.
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.affiliation: Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia.
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.affiliation: Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Ilan
authors.initials: I
authors.lastname: Blatt
mesh_terms: D000293:Adolescent; D000328:Adult; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000379:methods; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D054546:Neuroacanthocytosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D033921:Vesicular Transport Proteins / Q000235:genetics*; D055815:Young Adult
chemical_list: C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins
keywords: Chorea-acanthocytosis; Chorein; Epilepsy; Genetics; VPS13A