ArticleDevelopmental medicine and child neurology2016
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Article in Developmental medicine and child neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Customized multigene panels in epilepsy: the best things come in small packages.Neurogenetics · 2020Pooled it
- Hippocampal microcircuits constrain the generation of epileptiform activity.bioRxiv : the preprint server for biology · 2026Article
- Unraveling Lennox-Gastaut Syndrome: From Molecular Pathogenesis to Precision Diagnosis and Targeted Therapy Evolving Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.Epilepsy & behavior : E&B · 2025Article
- Transcriptomic analyses of human brains with Alzheimer's disease identified dysregulated epilepsy-causing genes.medRxiv : the preprint server for health sciences · 2025Article
- GABAJournal of neurochemistry · 2024Review
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Comparative single-cell transcriptomic analysis reveals putative differentiation drivers and potential origin of vertebrate retina.NAR genomics and bioinformatics · 2024Article
- Valproic Acid-Induced Thrombocytopenia in Treatment-Resistant GABRB3 Genetic Epilepsy: A Case Report.Cureus · 2024Article
- GABAInternational journal of molecular sciences · 2023Article
- Modelling the Human Blood-Brain Barrier in Huntington Disease.International journal of molecular sciences · 2022Article
- GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.Journal of neurology · 2022Article
- Novel mutation of SIK1 gene causing a mild form of pediatric epilepsy in a Chinese patient.Metabolic brain disease · 2022Article
- An association study in the Taiwan Biobank elicits the GABAA receptor genes GABRB3, GABRA5, and GABRG3 as candidate loci for sleep duration in the Taiwanese population.BMC medical genomics · 2021Article
- Phenotypic analysis of catastrophic childhood epilepsy genes.Communications biology · 2021Article
- Characterization of the GABRB2-Associated Neurodevelopmental Disorders.Annals of neurology · 2021Article
- Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.Oman medical journal · 2021Article
- Intricacies of GABAInternational journal of molecular sciences · 2021Review
- Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.Neurobiology of disease · 2021Review
- Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.Human genomics · 2020Article
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8 authors at 4 institutions in 2 countries.
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Abstract
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system. Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. We report the clinical and electrographic features of a novel case of GABRB3-related early-onset epileptic encephalopathy. Our patient presented with neonatal hypotonia and feeding difficulties, then developed pharmacoresistant epileptic encephalopathy, characterized by multiple seizure types from 3 months of age. Electroencephalography demonstrated ictal generalized and interictal multifocal epileptiform abnormalities. Using a SureSelectXT custom multiple gene panel covering 48 early infantile epileptic encephalopathy/developmental delay genes, a novel de novo GABRB3 heterozygous missense mutation, c.860C>T (p.Thr287Ile), was identified and confirmed on Sanger sequencing. GABRB3 is an emerging cause of early-onset epilepsy. Novel genetic technologies, such as whole-exome/genome sequencing and multiple gene panels, will undoubtedly identify further cases, allowing more detailed electroclinical delineation of the GABRB3-related genotypic and phenotypic spectra.
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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.