Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/243439
Type: Artigo de periódico
Title: Lack Of Association Between The Prothrombin Rs1799963 Polymorphism And Juvenile Myoclonic Epilepsy
Author: Lopes Born
Joao Paulo; dos Santos
Bruna Priscila; Secolin
Rodrigo; Gameleira
Fernando Tenorio; 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: Factor-v-leiden
Methylenetetrahydrofolate Reductase
Venous Thrombosis
G20210a
Gene
Seizures
Mutation
Variant
Brain
Populations
Country: SAO PAULO SP
Editor: ASSOC ARQUIVOS NEURO- PSIQUIATRIA
Rights: fechado
Identifier DOI: 10.1590/0004-282X20150010
Address: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400289&lng=en&nrm=iso&tlng=en
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
wos_000354787600003.pdf119.71 kBAdobe PDFView/Open


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.