Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual de Campinas (UNICAMP)-
Autor(es): dc.contributorBrazilian Inst Neurosci & Neurotechnol BRAINN-
Autor(es): dc.contributorFed Univ Alagoas UFAL-
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorGonsales, Marina C.-
Autor(es): dc.creatorRibeiro, Patricia A. O.-
Autor(es): dc.creatorBetting, Luiz E. [UNESP]-
Autor(es): dc.creatorAlvim, Marina K. M.-
Autor(es): dc.creatorGuerreiro, Carlos M.-
Autor(es): dc.creatorYasuda, Clarissa L.-
Autor(es): dc.creatorGitai, Daniel L. G.-
Autor(es): dc.creatorCendes, Fernando-
Autor(es): dc.creatorLopes-Cendes, Iscia-
Data de aceite: dc.date.accessioned2022-02-22T00:57:10Z-
Data de disponibilização: dc.date.available2022-02-22T00:57:10Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2020-10-31-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1016/j.yebeh.2020.107469-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/209637-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/209637-
Descrição: dc.descriptionThe most common form of genetic generalized epilepsy (GGE) is juvenile myodonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 mutations should be included in the diagnostic epilepsy gene panels. To investigate the clinical utility of EFHC1 testing, we studied 125 individuals: 100 with JME and 25 with other GGEs. We amplified and sequenced all EFHC1 coding exons. Then, we predicted the pathogenicity or benign impact of the variants using the analyses proposed by the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP). Mutation screening revealed 11 missense variants in 44 probands with JME (44%) and one of the seven individuals with generalized tonic-clonic seizures on awakening (14%). Six of the 11 variants ( 54%) were classified as 'benign,' and the remaining variants were considered variants of uncertain significance (VUS). There is currently a limitation to test for genes that predispose an individual to complex, nonmonogenic phenotypes. Thus, we show suggestive evidence that EFHC1 testing lacks a scientific foundation based on the disputed nature of the gene-disease relationship and should be currently limited to research purposes. (C) 2020 Elsevier Inc. All rights reserved.-
Descrição: dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)-
Descrição: dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)-
Descrição: dc.descriptionUniv Campinas UNICAMP, Sch Med Sci, Dept Med Genet & Genom Med, Tessalia Vieira Camargo 126, BR-13083887 Campinas, SP, Brazil-
Descrição: dc.descriptionUniv Campinas UNICAMP, Sch Med Sci, Dept Neurol, Campinas, SP, Brazil-
Descrição: dc.descriptionBrazilian Inst Neurosci & Neurotechnol BRAINN, Campinas, SP, Brazil-
Descrição: dc.descriptionFed Univ Alagoas UFAL, Inst Biol Sci & Hlth, Maceio, Alagoas, Brazil-
Descrição: dc.descriptionSao Paulo State Univ UNESP, Sch Med, Dept Neurol & Psychiat, Botucatu, SP, Brazil-
Descrição: dc.descriptionSao Paulo State Univ UNESP, Sch Med, Dept Neurol & Psychiat, Botucatu, SP, Brazil-
Descrição: dc.descriptionFAPESP: FAPESP: 2013/07559-3-
Descrição: dc.descriptionCNPq: 143189/2009-3-
Descrição: dc.descriptionCNPq: 403299/2016-0-
Descrição: dc.descriptionCNPq: 309494/2014-1-
Formato: dc.format6-
Idioma: dc.languageen-
Publicador: dc.publisherElsevier B.V.-
Relação: dc.relationEpilepsy & Behavior-
???dc.source???: dc.sourceWeb of Science-
Palavras-chave: dc.subjectGenetic testing-
Palavras-chave: dc.subjectMissense mutation-
Palavras-chave: dc.subjectJuvenile myoclonic epilepsy-
Título: dc.titleRevisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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