Genetic Epilepsy

Gene: MCM3AP

Red List (low evidence)

- 2 families with probands compound heterozygous for variants in MCM3AP and a phenotype consistent with peripheral neuropathy with or without impaired intellectual development (MIM#618124).
- Two siblings from one family have severe generalised epilepsy and mild spastic diplegia.
- Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.
Sources: Literature

Created: 20 Dec 2023, 3:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MIM#618124)

Publications

• 32202298