Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

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 dev...

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Detalhes bibliográficos
Autor principal: Rocha, J (author)
Outros Autores: Guerra, C (author), Oliveira, R (author), Dória, S (author), Rego, R (author), Rosas, MJ (author)
Formato: article
Idioma:eng
Publicado em: 2013
Assuntos:
Texto completo:http://hdl.handle.net/10400.23/545
País:Portugal
Oai:oai:repositorio.hospitaldebraga.pt:10400.23/545
Descrição
Resumo: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.