| Literature DB >> 22576075 |
João Rocha1, Cátia Guerra, Renata Oliveira, Sofia Dória, Ricardo Rego, Maria José Rosas.
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.Entities:
Mesh:
Year: 2012 PMID: 22576075 DOI: 10.1684/epd.2012.0502
Source DB: PubMed Journal: Epileptic Disord ISSN: 1294-9361 Impact factor: 1.819