Genetic Epilepsy

Gene: CCDC22

Red List (low evidence)

X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities

Reviewed as on a research epilepsy gene list

PMID: 34020006 patient with epileptic encephalopathy but they had a missense variant VUS - segregated only in healthy mother and grandmother, no healthy males tested, maternal uncle deceased but wasn't tested. Didn't have the typical features of the condition (no posterior fossa anomalies or cardiac malformations).
Sources: Expert list

Created: 27 Dec 2023, 9:47 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ritscher-Schinzel syndrome 2 MIM#300963

Publications

• PMID: 34020006