John Libbey Eurotext

Epileptic Disorders

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome Volume 12, issue 3, September 2010

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  • Auteur(s) : Jacques Rochette, Patrice Roll, Ying-Hui Fu, Anne Gaëlle Lemoing, Barbara Royer, Agathe Roubertie, Patrick Berquin, Jacques Motte, Sau Wei Wong, Alasdair Hunter, Andrée Robaglia-Schlupp, Louis J Ptacek, Pierre Szepetowski , Inserm UMR925 & Unité de Neuro-Pédiatrie, Université de Picardie Jules-Verne, Amiens, France, Inserm UMR910, Université de la Méditerranée, Marseille, France, Department of Neurology, University of California San Francisco, San Francisco, USA, Département de Neuro-Pédiatrie, Hôpital Gui de Chauliac, Hôpitaux Universitaires, Montpellier, France, Département de Neuro-Pédiatrie, American Memorial Hospital, Reims, France, Department of Pediatrics, National University, Kuala Lumpur, Malaysia, Children's Hospital of Eastern Ontario, Ottawa, Canada, Department of Neurology, Howard Hughes Medical Institute, University of California San Francisco, San Francisco, USA, Institut de Neurobiologie de la Méditerranée (INMED), Inserm UMR901, Université de la Méditerranée, Marseille, France
  • Mots-clés : infantile seizures, epilepsy, paroxysmal dyskinesia, ICCA syndrome
  • Page(s) : 199-204
  • DOI : 10.1684/epd.2010.0328
  • Année de parution : 2010

Epilepsy and paroxysmal dyskinesia are two episodic cerebral disorders that can share a common genetic basis. Rare families with infantile seizures and paroxysmal dyskinesia [predominantly paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region). We report the clinical picture of seven previously unreported families with ICCA syndrome. The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s).