SLC12A5 and epilepsy of infancy with migrating focal seizures: In a sample of ten sporadic and one familial case of EIMFS, whole exome sequencing identified compound heterozygous SLC12A5 variants in two families: c.279 + 1G > C causing skipping of exon 3 in the transcript (p.E50_Q93del), c.572 C >T (p.A191V) in two siblings, and c.967T > C (p.S323P) and c.1243 A > G (p.M415V) in another individual.