Author | Horovitz, Dafne Dain Gandelman | |
Author | Lima, Maria Angelica de Faria Domingues de | |
Author | Pires, Lais de Carvalho | |
Author | Araujo, Abelardo de Queiroz Campos | |
Author | Vargas, Fernando Regla | |
Access date | 2023-08-01T02:13:23Z | |
Available date | 2023-08-01T02:13:23Z | |
Document date | 2023 | |
Citation | 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. | en_US |
ISSN | 1179-5735 | en_US |
URI | https://www.arca.fiocruz.br/handle/icict/59860 | |
Language | eng | en_US |
Publisher | SAGE Publications | en_US |
Rights | open access | |
Title | Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants | en_US |
Type | Article | |
DOI | 10.1177/11795735231181467 | |
Abstract | 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. | en_US |
Affilliation | 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. | en_US |
Affilliation | Gaffrée and Guinle University Hospital. Medical Genetics, Rio de Janeiro, RJ, Brazil. | en_US |
Affilliation | Universidade Federal do Rio de Janeiro. Pediatria Neurológica. Rio de Janeiro, RJ, Brazil. | en_US |
Affilliation | 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. | en_US |
Affilliation | 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. | en_US |
Subject | HCN1 protein | en_US |
Subject | IRF2BPL protein | en_US |
Subject | Developmental disabilities | en_US |
Subject | Epilepsy | en_US |
Subject | Parkinsonian disorders | en_US |
Subject | Rare diseases | en_US |
Subject | Whole exome sequencing | en_US |
e-ISSN | 1179-5735 | |