Genetic Epilepsy

Gene: SCN3A

Green List (high evidence)

Cohort of 22 individuals reported, defining SCN3A-related neurodevelopmental disorder along a spectrum of severity, but typically including epilepsy and severe or profound developmental delay/intellectual disability. Malformations of cortical development are a characteristic feature, present in over 75% of affected individuals. Gain of function at the channel level in developing neurons is likely an important mechanism of disease pathogenesis, though one of the variants studied exhibited mixed GoF and LoF effects.

Created: 14 Jun 2020, 9:53 a.m. | Last Modified: 14 Jun 2020, 9:53 a.m.

Panel Version: 0.722

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial focal, with variable foci 4, MIM# 617935; Epileptic encephalopathy, early infantile, 62, MIM# 617938; Intellectual disability; Malformations of cortical development

Publications

• 32515017

Mode of pathogenicity
Other