title: Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
abstract: 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).
authors: Unité de Neuro-Pédiatrie, Université de Picardie Jules-Verne, Amiens, France. jacques.rochette@u-picardie.fr
authors: Jacques
authors: J
authors: Rochette
authors: Patrice
authors: P
authors: Roll
authors: Ying-Hui
authors: YH
authors: Fu
authors: Anne Gaëlle
authors: AG
authors: Lemoing
authors: Barbara
authors: B
authors: Royer
authors: Agathe
authors: A
authors: Roubertie
authors: Patrick
authors: P
authors: Berquin
authors: Jacques
authors: J
authors: Motte
authors: Sau Wei
authors: SW
authors: Wong
authors: Alasdair
authors: A
authors: Hunter
authors: Andrée
authors: A
authors: Robaglia-Schlupp
authors: Louis J
authors: LJ
authors: Ptacek
authors: Pierre
authors: P
authors: Szepetowski
mesh_terms: D017668:Age of Onset; D002819:Chorea / Q000150:complications / Q000235:genetics*; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012640:Seizures / Q000150:complications / Q000235:genetics*; D013577:Syndrome
chemical_list: D004247:DNA