title: Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication.
abstract: The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome.
authors.affiliation: Neurology Department of Hospital de Braga, Braga, Portugal. joaomrocha@gmail.com
authors.forename: João
authors.initials: J
authors.lastname: Rocha
authors.forename: Cátia
authors.initials: C
authors.lastname: Guerra
authors.forename: Renata
authors.initials: R
authors.lastname: Oliveira
authors.forename: Sofia
authors.initials: S
authors.lastname: Dória
authors.forename: Ricardo
authors.initials: R
authors.lastname: Rego
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Rosas
mesh_terms: D000328:Adult; D001519:Behavior; D001921:Brain / Q000473:pathology; D058674:Chromosome Duplication / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004351:Drug Resistance; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007398:Interpersonal Relations; D007805:Language Development Disorders / Q000209:etiology; D065768:Lennox Gastaut Syndrome; D008279:Magnetic Resonance Imaging; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013226:Status Epilepticus / Q000209:etiology; D014057:Tomography, X-Ray Computed