- 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
- Mots-clés : infantile seizures, epilepsy, paroxysmal dyskinesia, ICCA syndrome
- Page(s) : 199-204
- DOI : 10.1684/epd.2010.0328
- Année de parution : 2010
Résumé : 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).