Epileptic encephalopathyGene: GPAA1
Associated with phenotype in OMIM. At least 7 variants reported in 10 patients from 5 unrelated families with Glycosylphosphatidylinositol biosynthesis defect 15 (617810). The patients ranged in age from 3.8 to 30 years. All had mild to moderate intellectual disability, together with other features of developmental delay and early-onset seizures in the majority of cases.
15 Mar 2018, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Glycosylphosphatidylinositol biosynthesis defect 15, 617810
This gene has been classified as Green List (High Evidence).
GPAA1 was added to Epileptic encephalopathy panel. Sources: Literature
GPAA1 was created by Sarah Leigh