Epileptic encephalopathyGene: TRAK1
c.287-2A>C homozygous variant reported in four cases in three apparently unrelated Israeli families (no haplotype information provided), segregation with condition reported with disease in these families. Functional studies included. From PMID 28364549.
Created: 4 May 2017, 12:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
TRAK1 was added to Epileptic encephalopathypanel. Sources: Literature
TRAK1 was created by sleigh