Genetic Epilepsy

Gene: MAPK8IP3

I don't know

5/13 patients had generalized seizures, but for 3/13 it was a single event, 1/13 it was recurrent. All individuals had missense variants.
Sources: Literature

Created: 8 Oct 2021, 5:57 a.m.

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

Phenotypes
Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443

Publications

• PMID: 30612693

Green List (high evidence)

18 unrelated individuals reported with de novo variants and a neurodevelopmental disorder characterised by global developmental delay, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and nonspecific dysmorphic facial features are described.

Created: 12 Sep 2020, 6:21 a.m. | Last Modified: 12 Sep 2020, 6:21 a.m.

Panel Version: 0.4389

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431

Publications

• 30612693
• 30945334