Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Genes: CPA6 (Hsa)

familial febrile seizures 11

Disease
Source: DOID:0111308
Definition: A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2.
Genes: CPA6 (Hsa)

familial temporal lobe epilepsy 5

Disease
Source: DOID:0060752
Definition: A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13.
Genes: CPA6 (Hsa)