ArticleNature communications2022
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
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In one paragraph
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
48citing papers in PubMed, 2 pooled it
6.0field-weighted citation impact, top 2% of its field
What it found
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- A systematic review of genome-wide analyses of methylation changes associated with assisted reproductive technologies in various tissues.Fertility and sterility · 2024Pooled it
- Cys-loop receptors on cannabinoids: All high?Frontiers in physiology · 2022Pooled it
- Targeting Spinal Dorsal Horn Sensitisation in Chronic Pain: Mechanisms and Translational Strategies.Neuroscience bulletin · 2026Review
- Observational
- Artificial intelligence in the assessment of epilepsy-related genetic mutations: Learned from GABAEpilepsia open · 2026Review
- An atomic interaction conserved for over 600 million years gates inhibitory neurotransmission.bioRxiv : the preprint server for biology · 2026Article
- Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Epilepsia · 2026Article
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.The Journal of clinical investigation · 2026Article
- Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity.Frontiers in genetics · 2026Review
- A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.Cell death discovery · 2025Article
- Cell-autonomous GABAARs are essential for NMDAR-mediated synaptic transmission, LTP, and spatial memory.EMBO reports · 2025Article
- Phenotypic Spectrum in Individuals With PathogenicNeurology · 2025Article
- Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.Italian journal of pediatrics · 2025Article
- GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features.Epilepsia · 2025Article
- Proteostasis regulation of GABABiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025Review
- Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.Children (Basel, Switzerland) · 2025Review
- Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.Human molecular genetics · 2025Article
- Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.American journal of human genetics · 2025Article
- Critical contributions of neuronal subtypes to pediatric drug-resistant focal dysplasia.Frontiers in cell and developmental biology · 2025Article
Corrections and comments
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Authors and funding
17 authors at 10 institutions in 9 countries.
Nathan L Absalom *Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0002-6084-5991
Vivian W Y Liao *Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.ORCID 0000-0001-8608-0563
Katrine M H JohannesenDepartment of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.ORCID 0000-0002-7356-3109
Elena GardellaDepartment of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark.ORCID 0000-0002-7138-6022
Julia JacobsDepartment of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Freiburg, Germany.
Gaetan LescaDepartment of Medical Genetics, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.ORCID 0000-0001-7691-9492
Zeynep Gokce-SamarDepartment of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
Alexis ArzimanoglouDepartment of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.ORCID 0000-0002-7233-2771
Shimriet ZeidlerDepartment of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
Pasquale StrianoIRCCS Institute "Giannina Gaslini", Genova, Italy.ORCID 0000-0002-6065-1476
Pierre MeyerPediatric Neurology Department, Phymedexp, Montpellier University, Inserm, CRNS, Montpellier University Hospital, Montpellier, France.ORCID 0000-0001-5710-7376
Ira Benkel-HerrenbrueckSana-Krankenhaus Düsseldorf-Gerresheim, Academic Teaching Hospital der Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
Inger-Lise MeroDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Jutta RummelDepartment of Neurohabilitation, Oslo University Hospital, Oslo, Norway.
Mary ChebibBrain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Rikke S MøllerDepartment of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, Dianalund, Denmark. rimo@filadelfia.dk.ORCID 0000-0002-9664-1448
Philip K AhringBrain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia. philip.ahring@sydney.edu.au.ORCID 0000-0003-1807-3331
The University of Sydney · AUUniversity of Southern Denmark · DKHospices Civils de Lyon · FROslo University Hospital · NOErasmus MC · NLHeinrich Heine University Düsseldorf · DEInserm · FRIstituto Giannina Gaslini · ITUniversité Claude Bernard Lyon 1 · FRUniversity of Freiburg · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many patients with developmental and epileptic encephalopathies present with variants in genes coding for GABA
Indexed as
EpilepsyGain of Function MutationLoss of Function MutationReceptors, GABA-AHumansPhenotypeSeizuresGABRB3 protein, humanReceptors, GABA-A
Identifiers
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.