DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

ABSTRACT:

Purpose

Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring Mendelian gene that encodes a protein with one EF-hand motif (EFHC1) in chromosome 6p12. We observed one doubly heterozygous and three heterozygous missense mutations in EFHC1 segregating as an autosomal dominant gene with 21 affected members of six Hispanic JME families from California and Mexico. In 2006, similar and three novel missense mutations were reported in sporadic and familial Caucasian JME from Italy and Austria. In this study, we asked if coding single nucleotide polymorphisms (SNPs) of EFHC1 also contribute as susceptibility alleles to JME with complex genetics.

Methods

We screened using denaturing high-performance liquid chromatography

SUBMITTER: Bai D 

PROVIDER: S-EPMC4607268 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature