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Type: Artigo
Title: Lack of association between the prothrombin RS1799963 polymorphism and juvenile myoclonic epilepsy
Author: Lopes Born, Joao Paulo
dos Santos, Bruna Priscila
Secolin, Rodrigo
de Andrade, Tiago Gomes
Herculano Machado, Luciana Claudia
Goes Gitai, Livia Leite
Goes Gitai, Daniel Leite
Abstract: Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective: The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results: The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion: These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure
Subject: Epilepsia mioclônica juvenil
Polimorfismo (Genética)
Country: Brasil
Editor: Associação Arquivos de Neuro-Psiquiatria
Rights: Aberto
Identifier DOI: 10.1590/0004-282X20150010
Date Issue: 2015
Appears in Collections:FCM - Artigos e Outros Documentos

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