Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

ABSTRACT:

Background

Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Mutations in 5 genes that raise susceptibility to GEFS+ have been discovered, but they account for only a small proportion of families.

Methods

We identified a 4-generation family containing 15 affected individuals with a range of phenotypes in the GEFS+ spectrum, including febrile seizures, febrile seizures plus, epilepsy, and severe epilepsy with developmental delay. We performed a genome-wide linkage analysis using microsatellite markers and then saturated the potential linkage region identified by this screen with more markers. We evaluated the evidence for linkage using both model-based and model-free (posterior probability of linkage [PPL

SUBMITTER: Poduri A 

PROVIDER: S-EPMC2764413 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature