Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
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).
Rochette
Jacques
J
Unité de Neuro-Pédiatrie, Université de Picardie Jules-Verne, Amiens, France. jacques.rochette@u-picardie.fr
Roll
Patrice
P
Fu
Ying-Hui
YH
Lemoing
Anne Gaëlle
AG
Royer
Barbara
B
Roubertie
Agathe
A
Berquin
Patrick
P
Motte
Jacques
J
Wong
Sau Wei
SW
Hunter
Alasdair
A
Robaglia-Schlupp
Andrée
A
Ptacek
Louis J
LJ
Szepetowski
Pierre
P
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
D004247:DNA