A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.

ABSTRACT:

Objective

Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in two independent US and Canadian case-control samples. Here, we aimed to find a causative variant for centrotemporal sharp waves using a larger sample and higher resolution genotyping array.

Methods

We fine-mapped the ELP4-PAX6 locus in 186 individuals from rolandic epilepsy families and 1000 population controls of European origin using the Illumina HumanCoreExome-12 v1.0 BeadChip. Controls were matched to cases on ethnicity using principal component analysis. We

SUBMITTER: Panjwani N 

PROVIDER: S-EPMC4931716 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature