Genetic Epilepsy

Gene: PPP2R1A

Green List (high evidence)

Intellectual disability with variable other features, including CC abnormalities and microcephaly/macrocephaly.

Created: 24 Jun 2021, 11 a.m. | Last Modified: 24 Jun 2021, 11:03 a.m.

Panel Version: 0.8106

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605

Green List (high evidence)

Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).

10/26 patients were reported with epilepsy, interestingly none also presented with macrocephaly (otherwise observed in 38% of the cohort)
Sources: Literature

Created: 23 Jun 2021, 11:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 36 MIM#616362

Publications

• PMID: 33106617
• 26168268

Mode of pathogenicity
Other