Genetic Epilepsy

Gene: MECP2

Green List (high evidence)

Well established gene-disease associations.

Created: 18 May 2022, 5:42 a.m. | Last Modified: 18 May 2022, 5:42 a.m.

Panel Version: 0.14456

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673

Green List (high evidence)

PMID: 32469049 (2020) - Mouse model with the common p.R294X variant in Mecp2 recapitulated many features of the human disorder, including motor dysfunction, deficits in learning and memory, and atypical electroencephalography activity.
Phenotypic abnormalities including early death were rescued by supplying the MECP2 transgene. In vitro and in vivo treatment with the nonsense suppression agent G418 resulted in full-length MeCP2 protein expression, demonstrating feasibility of this therapeutic approach.

Created: 23 Sep 2020, 11:43 a.m. | Last Modified: 23 Sep 2020, 11:43 a.m.

Panel Version: 0.4557

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Rett syndrome, 312750

Publications

• 32469049