title: Ring chromosome 20 epilepsy syndrome in children: electroclinical features.
abstract: Ring chromosome 20 mosaicism is associated with dysmorphic features, mental retardation, and intractable seizures, including recurrent episodes of nonconvulsive status epilepticus. The authors' findings in four children, all without dysmorphic features, indicate that mental deterioration and frequent subtle nocturnal frontal lobe seizures, associated with a characteristic EEG pattern, represent prominent additional clinical features not previously described in this syndrome. This emphasizes the importance of full-night video-EEG in children with frontal lobe seizures and cognitive deterioration.
authors.affiliation: Meer en Bosch and De Cruquiushoeve, Stichting Epilepsie Instellingen Nederland, Heemstede, the Netherlands. paugustijn@sein.nl
authors.forename: P B
authors.initials: PB
authors.lastname: Augustijn
authors.forename: J
authors.initials: J
authors.lastname: Parra
authors.forename: C H
authors.initials: CH
authors.lastname: Wouters
authors.forename: P
authors.initials: P
authors.lastname: Joosten
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
authors.forename: W
authors.initials: W
authors.lastname: van Emde Boas
mesh_terms: D000293:Adolescent; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002890:Chromosomes, Human, Pair 20; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D012303:Ring Chromosomes; D013226:Status Epilepticus / Q000175:diagnosis / Q000235:genetics