GABRB3

Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

Epilepsy
Lennox-Gastaut syndrome
Dravet syndrome
Intellectual disability
Autism
movement disorders (including choreoathetosis, dystonia, and ataxia)
Hypotonia
Cortical-visual impairment

GABRB3 Family Presentation Video, June 2023:
(Click here to dowload presentation video)

Parent support group: https://www.facebook.com/groups/2460533920883846 and https://www.facebook.com/groups/272337333856747

Non-Profit organization “GABRB3 Life Changes” based in Italy: www.gabrb3.com

GABRB3 Family Presentation Slides, June 2023
(Click Here for PowerPoint file download)

Publications:

Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity | Brain | Oxford Academic (oup.com)

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation

Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

GABAA Receptor Variants in Epilepsy