Paroxysmal Dyskinesia

Gene: GABRB3

Green List (high evidence)

Voltage-clamp electrophysiology studies have shown that gain-of-function variants clustering in the transmembrane regions part of the channel pore result in a more severe phenotype, including movement disorders (dystonia and dyskinesia) and microcephaly.

Gain-of-function variants clustered in the coupling loops responsible for receptor activation are not associated with movement disorder and microcephaly.

LoF variants have not been associated with microcephaly and movement disorders either.
Sources: Literature

Created: 7 Sep 2023, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 43 MIM#617113

Publications

• 37647766

Mode of pathogenicity
Other