Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.23/545
Título: Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
Autor: Rocha, J
Guerra, C
Oliveira, R
Dória, S
Rego, R
Rosas, MJ
Palavras-chave: Duplicação Cromossómica
Cromossoma Humano Par 15
Deficiência Intelectual
Espasmos Infantis
Data: 2012
Editora: Springer
Citação: Epileptic Disord. 2012;14(2):159-62.
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.
Peer review: yes
URI: http://comum.rcaap.pt/handle/123456789/4901
http://hdl.handle.net/10400.23/545
Aparece nas colecções:HB - NEU - Artigos

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