title: [Epilepsy in an adult with chromosome 22q11 micro-deletion].
abstract: Chromosome 22q11 deletion is a frequent genetic anomaly, recently discovered, responsible for DiGeorge syndrome and velo-cardio-facial syndrome. The spectrum of clinical features is large: dysmorphic syndrome, mental delay, conotroncal cardiopathy; neurologic manifestations are not rare. Case report is a 28 year old man who presented a symptomatic epilepsy caused by stroke, associated with conotroncal cardiopathy, mental delay, hypocalcemia and facial dysmorphy. A cytogenetic study confirmed the chromosome 22q11 deletion.
authors.affiliation: Service de Neurologie et maladies neuro-musculaires, Hôpital de la Timone, Marseille.
authors.forename: P
authors.initials: P
authors.lastname: Alla
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: J P
authors.initials: JP
authors.lastname: Azulay
authors.forename: S
authors.initials: S
authors.lastname: Attarian
authors.forename: J
authors.initials: J
authors.lastname: Pouget
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology*; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D017403:In Situ Hybridization; D008279:Magnetic Resonance Imaging; D008297:Male; D020521:Stroke / Q000150:complications*; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D014635:Valproic Acid
vernacular_title: Epilepsie chez un adulte porteur de la microdélétion 22q11.