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

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dc.contributor.author	Rocha, J
dc.contributor.author	Guerra, C
dc.contributor.author	Oliveira, R
dc.contributor.author	Dória, S
dc.contributor.author	Rego, R
dc.contributor.author	Rosas, MJ
dc.date.accessioned	2013-11-15T14:35:18Z
dc.date.available	2013-11-15T14:35:18Z
dc.date.issued	2012
dc.description.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.	por
dc.identifier.citation	Epileptic Disord. 2012;14(2):159-62.	por
dc.identifier.uri	http://hdl.handle.net/10400.23/545
dc.language.iso	eng	por
dc.peerreviewed	yes	por
dc.publisher	Springer	por
dc.subject	Duplicação Cromossómica	por
dc.subject	Cromossoma Humano Par 15	por
dc.subject	Deficiência Intelectual	por
dc.subject	Espasmos Infantis	por
dc.title	Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication	por
dc.type	journal article
dspace.entity.type	Publication
rcaap.rights	openAccess	por
rcaap.type	article	por

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