Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients

Bibliographic Details
Main Author: Martins-da-Silva, António
Publication Date: 2014
Other Authors: Lopes, João, Ramalheira, João, Carvalho, Cláudia, Cunha, Daniela, Costa, Paulo P, Silva, M Berta
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.16/1875
Summary: 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.
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spelling Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patientsHLA-DQB1*06:02HypocretinIdiopathic hypersomniaNarcolepsyNarcolepsy with cataplexySleep disordersThe 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.Revista De NeurologiaRepositório Científico da Unidade Local de Saúde de Santo AntónioMartins-da-Silva, AntónioLopes, JoãoRamalheira, JoãoCarvalho, CláudiaCunha, DanielaCosta, Paulo PSilva, M Berta2015-11-02T13:39:26Z2014-01-162014-01-16T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/1875eng0210-0010info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-26T10:08:15Zoai:repositorio.chporto.pt:10400.16/1875Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T21:19:56.006425Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
title Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
spellingShingle Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
Martins-da-Silva, António
HLA-DQB1*06:02
Hypocretin
Idiopathic hypersomnia
Narcolepsy
Narcolepsy with cataplexy
Sleep disorders
title_short Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
title_full Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
title_fullStr Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
title_full_unstemmed Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
title_sort Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients
author Martins-da-Silva, António
author_facet Martins-da-Silva, António
Lopes, João
Ramalheira, João
Carvalho, Cláudia
Cunha, Daniela
Costa, Paulo P
Silva, M Berta
author_role author
author2 Lopes, João
Ramalheira, João
Carvalho, Cláudia
Cunha, Daniela
Costa, Paulo P
Silva, M Berta
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico da Unidade Local de Saúde de Santo António
dc.contributor.author.fl_str_mv Martins-da-Silva, António
Lopes, João
Ramalheira, João
Carvalho, Cláudia
Cunha, Daniela
Costa, Paulo P
Silva, M Berta
dc.subject.por.fl_str_mv HLA-DQB1*06:02
Hypocretin
Idiopathic hypersomnia
Narcolepsy
Narcolepsy with cataplexy
Sleep disorders
topic HLA-DQB1*06:02
Hypocretin
Idiopathic hypersomnia
Narcolepsy
Narcolepsy with cataplexy
Sleep disorders
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-01-16
2014-01-16T00:00:00Z
2015-11-02T13:39:26Z
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/10400.16/1875
url http://hdl.handle.net/10400.16/1875
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 0210-0010
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 Revista De Neurologia
publisher.none.fl_str_mv Revista De Neurologia
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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