SLC25A22 is a novel gene for migrating partial seizures in infancy.

ABSTRACT:

Objective

To identify a genetic cause for migrating partial seizures in infancy (MPSI).

Methods

We characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorphism 500K data to identify regions with evidence of linkage. We performed whole exome sequencing and analyzed homozygous variants in regions of linkage to identify a candidate gene and performed functional studies of the candidate gene SLC25A22.

Results

In a consanguineous pedigree with 2 individuals with MPSI, we identified 2 regions of linkage, chromosome 4p16.1-p16.3 and chromosome 11p15.4-pter. Using whole exome sequencing, we identified 8 novel homozygous variants in genes in these regions. Only 1 variant, SLC25A22 c.G

SUBMITTER: Poduri A 

PROVIDER: S-EPMC4031329 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature