title: Gelastic seizures in ring chromosome 20 syndrome: a case report with video illustration.
abstract: Although increasingly recognised, ring chromosome 20 (r[20]) syndrome is still diagnosed with delay, sometimes leading to inappropriate presurgical evaluation. The focal, presumed frontal, character of the seizures manifesting with fear and hypermotor behaviour and episodes of non-convulsive status epilepticus (NCSE) are most typical, as well as cognitive impairment with behavioural problems and, sometimes, dysmorphic signs. We present a girl diagnosed at the age of 13 years who suffered from an atypical clinical presentation, with minimal cognitive problems, absence of dysmorphic symptoms, and hypermotor/gelastic seizures. [Published with video sequences].
authors.affiliation: Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria. psdimova@gmail.com
authors.forename: Petia
authors.initials: P
authors.lastname: Dimova
authors.forename: Iliyana
authors.initials: I
authors.lastname: Boneva
authors.forename: Albena
authors.initials: A
authors.lastname: Todorova
authors.forename: Lorella
authors.initials: L
authors.lastname: Minotti
authors.forename: Philippe
authors.initials: P
authors.lastname: Kahane
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000000981:diagnostic imaging; D002220:Carbamazepine / Q000031:analogs & derivatives / Q000627:therapeutic use; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004351:Drug Resistance; D004569:Electroencephalography / Q000187:drug effects; D004828:Epilepsies, Partial / Q000235:genetics* / Q000523:psychology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009483:Neuropsychological Tests; D000078330:Oxcarbazepine; D012303:Ring Chromosomes; D012919:Social Behavior; D014057:Tomography, X-Ray Computed; D014741:Video Recording
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D000078330:Oxcarbazepine