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

Detalhes bibliográficos
Autor(a) principal: Rocha, J
Data de Publicação: 2012
Outros Autores: Guerra, C, Oliveira, R, Dória, S, Rego, R, Rosas, MJ
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.23/545
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.
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spelling Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplicationDuplicação CromossómicaCromossoma Humano Par 15Deficiência IntelectualEspasmos InfantisThe 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.SpringerRepositório Científico do Hospital de BragaRocha, JGuerra, COliveira, RDória, SRego, RRosas, MJ2013-11-15T14:35:18Z2012-01-01T00:00:00Z2012-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.23/545engEpileptic Disord. 2012;14(2):159-62.info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T09:02:13Zoai:repositorio.hospitaldebraga.pt:10400.23/545Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:55:11.868650Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
title Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
spellingShingle Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
Rocha, J
Duplicação Cromossómica
Cromossoma Humano Par 15
Deficiência Intelectual
Espasmos Infantis
title_short Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
title_full Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
title_fullStr Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
title_full_unstemmed Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
title_sort Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
author Rocha, J
author_facet Rocha, J
Guerra, C
Oliveira, R
Dória, S
Rego, R
Rosas, MJ
author_role author
author2 Guerra, C
Oliveira, R
Dória, S
Rego, R
Rosas, MJ
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Hospital de Braga
dc.contributor.author.fl_str_mv Rocha, J
Guerra, C
Oliveira, R
Dória, S
Rego, R
Rosas, MJ
dc.subject.por.fl_str_mv Duplicação Cromossómica
Cromossoma Humano Par 15
Deficiência Intelectual
Espasmos Infantis
topic Duplicação Cromossómica
Cromossoma Humano Par 15
Deficiência Intelectual
Espasmos Infantis
description 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.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-01T00:00:00Z
2012-01-01T00:00:00Z
2013-11-15T14:35:18Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.23/545
url http://hdl.handle.net/10400.23/545
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Epileptic Disord. 2012;14(2):159-62.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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