title: Ring 14 chromosome with complex partial seizures: a case report.
abstract: A two-year-old girl was found to have a ring 14 chromosome: [46, XX, r(14) (P13 q32.3)]. Her development, including verbal ability, was retarded, her CT scan displayed a low density area anterior to the left temporal lobe, and she suffered from complex partial seizures. Focal central nervous system abnormalities may be present in patients with ring 14 chromosome, and their seizures are not exclusively of the primary generalized type. This is the first case with ring 14 chromosome and complex partial seizures.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kyoto University, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Shirasaka
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Okuno
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: K
authors.initials: K
authors.lastname: Nozaki
authors.forename: H
authors.initials: H
authors.lastname: Mikawa
mesh_terms: D002648:Child; D002883:Chromosomes, Human, Pair 14; D004569:Electroencephalography; D017029:Epilepsy, Complex Partial / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010634:Phenobarbital / Q000627:therapeutic use; D010672:Phenytoin / Q000627:therapeutic use; D012303:Ring Chromosomes; D014057:Tomography, X-Ray Computed; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D014635:Valproic Acid; D010672:Phenytoin; D010634:Phenobarbital