Genetic Epilepsy

Gene: GABRB2

Green List (high evidence)

Only missense reported. Missense cluster aa244-304 (PMID: 29100083). Dominant negative effect postulated (PMID: 27789573) - Paper described p.T287P has reduced cell-surface expression and peak current amplitudes of GABA channels. Reduced peak current was much greater than mutant present at the cell surface, suggesting dominant negative impact.

Created: 21 Apr 2020, 1:17 a.m. | Last Modified: 21 Apr 2020, 1:17 a.m.

Panel Version: 0.664

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, infantile or early childhood, 2, MIM# 617829

Publications

• 27789573
• 29100083

Green List (high evidence)

Dominant negative (PMID: 27789573) - Paper described p.T287P has reduced cell-surface expression and peak current amplitudes of GABA channels. Reduced peak current was much greater than mutant present at the cell surface, suggesting dominant negative impact.

Only missense reported

Missense cluster aa244-304 (PMID: 29100083)

Created: 20 Apr 2020, 11:11 p.m. | Last Modified: 20 Apr 2020, 11:11 p.m.

Panel Version: 0.2489

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

Phenotypes
Epileptic encephalopathy, infantile or early childhood, 2 617829

Publications

• PMID: 27789573
• 29100083

Mode of pathogenicity
Other