ReviewEpilepsia2022
Molecular and clinical descriptions of patients with GABA
Review in Epilepsia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 74 citations in OpenAlex.
- Genotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.Pediatric research · 2026Article
- An atomic interaction conserved for over 600 million years gates inhibitory neurotransmission.bioRxiv : the preprint server for biology · 2026Article
- Epilepsy: Molecular Pathogenesis and Emerging Therapies.MedComm · 2026Review
- Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants.Epilepsia · 2026Article
- The Role of GABA and Its Receptors in Temporal Lobe Epilepsy.Biomolecules · 2026Review
- Bridging language phenotypes, neural dynamics and gene regulation in autism.Imaging neuroscience (Cambridge, Mass.) · 2026Review
- Direct modulation of human GABA-A αFrontiers in neuroscience · 2026Review
- Baicalein Alleviates Lithium-Pilocarpine-Induced Status Epilepticus by Regulating DNMT1/GABRD Pathway in Rats.Organogenesis · 2025Article
- AExperimental and therapeutic medicine · 2025Article
- Asymmetric gating of a homopentameric ion channel GLIC revealed by cryo-EM.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The Role of GABA Pathway Components in Pathogenesis of Neurodevelopmental Disorders.International journal of molecular sciences · 2025Review
- Phenotypic Spectrum in Individuals With PathogenicNeurology · 2025Article
- Article
- 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
- Benzodiazepine-resistant epilepsy: unraveling molecular mechanisms and developing multimodal therapeutic strategies.Frontiers in neurology · 2025Review
- A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient.Annals of clinical and translational neurology · 2025Article
- Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024Article
- miR-144-3p Targets GABRB2 to Suppress Thyroid Cancer Progression In Vitro.Cell biochemistry and biophysics · 2024Article
- GABAJournal of neurochemistry · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
34 authors at 13 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveγ-Aminobutyric acid (GABA)
methodsWe collected clinical, electrophysiological, therapeutic, and molecular data from patients with GABA
resultsWe gathered the reported patients in three epileptic phenotypes: 15 patients with fever-related epilepsy (40%), 11 with early developmental epileptic encephalopathy (30%), 10 with generalized epilepsy spectrum (27%), and 1 patient without seizures (3%). We did not find a specific phenotype for any gene, but we showed that the location of variants on the transmembrane (TM) segment was associated with a more severe phenotype, irrespective of the GABA SIGNIFICANCE: GABA
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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.