Genetic Epilepsy

Gene: CCDC88C

I don't know

PMID: 38173219 – Cohort of individuals with epilepsy. Identified novel CCDC88C variants, including two de novo missense and two biallelic variants, in four unrelated individuals with focal (partial) epilepsy. The two heterozygous variants were of de novo origin. The two pairs of compound heterozygous mutations were inherited from their asymptomatic parents. Patients with de novo variants presented with adult-onset epilepsy, whereas patients with biallelic variants displayed infant-onset epilepsy.

Created: 1 Feb 2024, 12:45 a.m. | Last Modified: 1 Feb 2024, 12:45 a.m.

Panel Version: 0.2198

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
monogenic epilepsy MONDO:0015653, CCDC88C-related

Publications

• 38173219

Green List (high evidence)

3 independant families with seizures reported as a feature, onset between birth and 2 years. Focal and tonic clonic. Summary table in PMID: 29341397.
Sources: Expert list

Created: 27 Dec 2023, 9:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 1 MIM#236600

Publications

• PMID: 29341397, PMID: 23042809, PMID: 21031079