[Ring chromosome 20: an identifiable epileptic syndrome].
Ring chromosome 20 (RC20) is a rare chromosomopathy characterized by slight mental deficiency, behavioral disorders and epilepsy. We report two cases of ring chromosome 20, who exhibited non convulsive status epilepticus lasting minutes to hours, often triggered by emotional events, with associated typical electroencephalographic features. Our report highlights the features of the electroclinical epilepsy syndrome associated with RC20, which represents a distinct and recognizable entity. The genetic basis of this disorder is discussed.
Roubertie
A
A
Centre Saint Paul, Marseille.
Petit
J
J
Genton
P
P
D000328:Adult; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D012303:Ring Chromosomes; D013577:Syndrome