Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , |
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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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 |
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eng |
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eng |
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info:eu-repo/semantics/openAccess |
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SAGE Publications |
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SAGE Publications |
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