New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies

Autor(es)

Magalhaes, Pedro H. M. ; Moraes, Helena T. ; Athie, Maria C. P. ; Secolin, Rodrigo ; Lopes-Cendes, Iscia ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Campinas UNICAMP, Sch Med Sci, Dept Med Genet, Tessalia Vieira Camargo, 126, Cidade Univ Zeferino, BR-13083887 Campinas, SP - Brazil

^[2] Univ Campinas UNICAMP, Dept Genom Med, Tessalia Vieira Camargo, 126, Cidade Univ Zeferino, BR-13083887 Campinas, SP - Brazil

• Tipo de documento: Artigo de Revisão
• Fonte: Epilepsy & Behavior; v. 121, n. B AUG 2021.
• Citações Web of Science: 2

Resumo

Genetic epidemiology studies have shown that most epilepsies involve some genetic cause. In addition, twin studies have helped strengthen the hypothesis that in most patients with epilepsy, a complex inheritance is involved. More recently, with the development of high-density single-nucleotide polymorphism (SNP) microarrays and next-generation sequencing (NGS) technologies, the discovery of genes related to the epilepsies has accelerated tremendously. Especially, the use of whole exome sequencing (WES) has had a considerable impact on the identification of rare genetic variants with large effect sizes, including inherited or de novo mutations in severe forms of childhood epilepsies. The identification of pathogenic variants in patients with these childhood epilepsies provides many benefits for patients and families, such as the confirmation of the genetic nature of the diseases. This process will allow for better genetic counseling, more accurate therapy decisions, and a significant positive emotional impact. However, to study the genetic component of the more common forms of epilepsy, the use of high-density SNP arrays in genome-wide association studies (GWAS) seems to be the strategy of choice. As such, researchers can identify loci containing genetic variants associated with the common forms of epilepsy. The knowledge generated over the past two decades about the effects of the mutations that cause the monogenic epilepsy is tremendous; however, the scientific community is just starting to apply this information in order to generate better target treatments. (c) 2019 Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 13/07559-3 - Instituto Brasileiro de Neurociência e Neurotecnologia - BRAINN
• Beneficiário: Fernando Cendes
• Modalidade de apoio: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs
• Processo FAPESP: 17/00648-1 - Investigando um efeito poligênico em dados genômicos de pacientes com encefalopatias epilépticas da infância (EEI)
• Beneficiário: Helena Tadiello de Moraes
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/19524-0 - Estudos de associação genética em epilepsia de lobo temporal mesial e acidente vascular cerebral
• Beneficiário: Rodrigo Secolin
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado