ArticleAmerican journal of medical genetics. Part A2014
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- No association ofFrontiers in neurology · 2022Pooled it
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential.Zoological research · 2026Review
- Methylation-Driven downregulation of GABRB2 in oral carcinoma's subtype: implications for early diagnosis and differentiation.BMC oral health · 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
- Chinese acupuncture: A potential treatment for autism rat model via improving synaptic function.Heliyon · 2024Article
- KCNT1 Channel Blockers: A Medicinal Chemistry Perspective.Molecules (Basel, Switzerland) · 2024Review
- Comparative analysis of the hypothalamus transcriptome of laying ducks with different residual feeding intake.Poultry science · 2024Article
- The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.Journal of neurology · 2023Article
- Article
- Rodent Models of Audiogenic Epilepsy: Genetic Aspects, Advantages, Current Problems and Perspectives.Biomedicines · 2022Review
- Characterization of the GABRB2-Associated Neurodevelopmental Disorders.Annals of neurology · 2021Article
- Dravet syndrome-associated mutations inBrain communications · 2021Article
- Elimination of human folypolyglutamate synthetase alters programming and plasticity of somatic cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Changes in Calcium Homeostasis and Gene Expression Implicated in Epilepsy in Hippocampi of Mice OverexpressingInternational journal of molecular sciences · 2019Article
- Pathogenic Variants inInternational journal of molecular sciences · 2019Article
- Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.Brain : a journal of neurology · 2019Article
- Genome-wide association study of multisite chronic pain in UK Biobank.PLoS genetics · 2019Article
- De novo sequencing and initial annotation of the Mongolian gerbil (Meriones unguiculatus) genome.Genomics · 2019Article
- Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus.Neurobiology of disease · 2019Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The γ-aminobutyric acid type A (GABAA ) receptor is one of the three main classes of receptors activated by GABA, the principal inhibitory neurotransmitter in the central nervous system. Mutations in genes encoding various subunits of this receptor (GABRA1, GABRA2, GABRA4, GABRA5, GABRA6, GABRB1, GABRB3, GABRG1, GABRG2, GABRG3, and GABRD) are implicated in a number of neurological and developmental disorders, including epilepsy and autism. To date, no human genetics studies have implicated mutations in GABRB2, encoding the β2 subunit of the GABAA receptor, with neurodevelopmental disorders. Here we present a 12-year-old girl with intellectual disability and epilepsy, who was discovered by whole exome sequencing to have a de novo heterozygous missense variant in exon 4 of GABRB2 (c.236T>C; p.M79T). This variant is likely pathogenic, based on in silico analyses, as well as the fact that it results in the non-conservative substitution of a non-polar amino acid with a polar amino acid at a position that is evolutionarily conserved across multiple species. Our findings underscore the need for further investigation into the mechanisms by which mutations in GABRB2 contribute to neurological and developmental dysfunction.
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Registered trials
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.