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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

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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)

Slide1.JPG

 

 

Publications: 

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

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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

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