Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/1875
Título: Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
Autor: Martins-da-Silva, António
Lopes, João
Ramalheira, João
Carvalho, Cláudia
Cunha, Daniela
Costa, Paulo P
Silva, M Berta
Palavras-chave: HLA-DQB1*06:02
Hypocretin
Idiopathic hypersomnia
Narcolepsy
Narcolepsy with cataplexy
Sleep disorders
Data: 16-Jan-2014
Editora: Revista De Neurologia
Citação: Rev Neurol 2014; 58 (2): 49-54
Resumo: The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the autoimmune hypothesis for the origin of narcolepsy. AIM. To assess the usefulness of genetic markers (HLA) in the differential diagnosis between different sleep disorders and their relevance in the context of our population.
Peer review: yes
URI: http://hdl.handle.net/10400.16/1875
ISSN: 0210-0010
Versão do Editor: http://www.revneurol.com/sec/resumen.php?or=pubmed&id=2013361#
Aparece nas colecções:SNF - Artigos publicados em revistas indexadas na Medline

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