Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants

Detalhes bibliográficos
Autor(a) principal: Horovitz, Dafne Dain Gandelman
Data de Publicação: 2023
Outros Autores: Lima, Maria Angelica de Faria Domingues de, Pires, Lais de Carvalho, Araujo, Abelardo de Queiroz Campos, Vargas, Fernando Regla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/59860
Resumo: Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.
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spelling Horovitz, Dafne Dain GandelmanLima, Maria Angelica de Faria Domingues dePires, Lais de CarvalhoAraujo, Abelardo de Queiroz CamposVargas, Fernando Regla2023-08-01T02:13:23Z2023-08-01T02:13:23Z2023HOROVITZ, Dafne Dain Gandelman et al. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants. Journal of Central Nervous System Disease, v. 15, p. 1-5, Jun. 2023.1179-5735https://www.arca.fiocruz.br/handle/icict/5986010.1177/117957352311814671179-5735engSAGE PublicationsNeurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variantsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.Gaffrée and Guinle University Hospital. Medical Genetics, Rio de Janeiro, RJ, Brazil.Universidade Federal do Rio de Janeiro. Pediatria Neurológica. Rio de Janeiro, RJ, Brazil.Universidade Federal do Rio de Janeiro. Rio de Janeiro, RJ, Brazil / Fundação Oswaldo Cruz. Instituto Nacional de Infectologia Evandro Chagas. Rio de Janeiro, RJ, Brazil.Gaffrée and Guinle University Hospital. Medical Genetics, Rio de Janeiro, RJ, Brazil / Universidade Federal do Estado do Rio de Janeiro. Genetics and Molecular Biology Department. Rio de Janeiro, RJ, Brazil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Epidemiology of Congenital Malformations Laboratory. Rio de Janeiro, RJ, Brazil / Instituto Nacional de Genética Médica Populacional. Rio de Janeiro, RJ, Brazil.IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.HCN1 proteinIRF2BPL proteinDevelopmental disabilitiesEpilepsyParkinsonian disordersRare diseasesWhole exome sequencinginfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/59860/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALve_Dafne_Horovitz_etal_IFF_INI_IOC_2023.pdfve_Dafne_Horovitz_etal_IFF_INI_IOC_2023.pdfapplication/pdf823098https://www.arca.fiocruz.br/bitstream/icict/59860/2/ve_Dafne_Horovitz_etal_IFF_INI_IOC_2023.pdfc0f853030535d5f757e8b5eaed608f0cMD52icict/598602023-09-04 11:10:51.221oai:www.arca.fiocruz.br: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ório 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dc.title.en_US.fl_str_mv Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
spellingShingle Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
Horovitz, Dafne Dain Gandelman
HCN1 protein
IRF2BPL protein
Developmental disabilities
Epilepsy
Parkinsonian disorders
Rare diseases
Whole exome sequencing
title_short Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_full Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_fullStr Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_full_unstemmed Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
title_sort Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
author Horovitz, Dafne Dain Gandelman
author_facet Horovitz, Dafne Dain Gandelman
Lima, Maria Angelica de Faria Domingues de
Pires, Lais de Carvalho
Araujo, Abelardo de Queiroz Campos
Vargas, Fernando Regla
author_role author
author2 Lima, Maria Angelica de Faria Domingues de
Pires, Lais de Carvalho
Araujo, Abelardo de Queiroz Campos
Vargas, Fernando Regla
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Horovitz, Dafne Dain Gandelman
Lima, Maria Angelica de Faria Domingues de
Pires, Lais de Carvalho
Araujo, Abelardo de Queiroz Campos
Vargas, Fernando Regla
dc.subject.en.en_US.fl_str_mv HCN1 protein
IRF2BPL protein
Developmental disabilities
Epilepsy
Parkinsonian disorders
Rare diseases
Whole exome sequencing
topic HCN1 protein
IRF2BPL protein
Developmental disabilities
Epilepsy
Parkinsonian disorders
Rare diseases
Whole exome sequencing
description Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.
publishDate 2023
dc.date.accessioned.fl_str_mv 2023-08-01T02:13:23Z
dc.date.available.fl_str_mv 2023-08-01T02:13:23Z
dc.date.issued.fl_str_mv 2023
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.citation.fl_str_mv HOROVITZ, Dafne Dain Gandelman et al. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants. Journal of Central Nervous System Disease, v. 15, p. 1-5, Jun. 2023.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/59860
dc.identifier.issn.en_US.fl_str_mv 1179-5735
dc.identifier.doi.none.fl_str_mv 10.1177/11795735231181467
dc.identifier.eissn.none.fl_str_mv 1179-5735
identifier_str_mv HOROVITZ, Dafne Dain Gandelman et al. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants. Journal of Central Nervous System Disease, v. 15, p. 1-5, Jun. 2023.
1179-5735
10.1177/11795735231181467
url https://www.arca.fiocruz.br/handle/icict/59860
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv SAGE Publications
publisher.none.fl_str_mv SAGE Publications
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/59860/1/license.txt
https://www.arca.fiocruz.br/bitstream/icict/59860/2/ve_Dafne_Horovitz_etal_IFF_INI_IOC_2023.pdf
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repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
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