ArticleNeurology2013
Multiple molecular mechanisms for a single GABAA mutation in epilepsy.
Article in Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.Frontiers in neurology · 2022Pooled it
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.Cell death discovery · 2025Article
- Article
- Article
- WONOEP appraisal: The role of glial cells in focal malformations associated with early onset epilepsies.Epilepsia · 2024Review
- Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.EBioMedicine · 2024Article
- De novo CLPTM1 variants with reduced GABAEpilepsia · 2023Article
- Genetic mechanisms in generalized epilepsies.Acta epileptologica · 2023Review
- Article
- Antidepressant Drugs for Seizures and Epilepsy: Where do we Stand?Current neuropharmacology · 2023Review
- Rare variants in GABRG2 associated with sleep-related hypermotor epilepsy.Journal of neurology · 2022Article
- Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice.Cell death & disease · 2021Article
- The K328M substitution in the human GABANeurobiology of disease · 2021Article
- Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children.International neurourology journal · 2021Article
- Characterization of the GABRB2-Associated Neurodevelopmental Disorders.Annals of neurology · 2021Article
- Dravet syndrome-associated mutations inBrain communications · 2021Article
- Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2Epilepsia · 2020Article
- The hyperpolarization-activated cyclic nucleotide-gated 4 channel as a potential anti-seizure drug target.British journal of pharmacology · 2020Article
- Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae.Disease models & mechanisms · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
objectiveTo understand the molecular basis and differential penetrance of febrile seizures and absence seizures in patients with the γ2(R43Q) GABA receptor mutation.
methodsSpike-and-wave discharges and thermal seizure susceptibility were measured in heterozygous GABA γ2 knock-out and GABA γ2(R43Q) knock-in mice models crossed to different mouse strains.
resultsBy comparing the GABA γ2 knock-out with the GABA γ2(R43Q) knock-in mouse model we show that haploinsufficiency underlies the genesis of absence seizures but cannot account for the thermal seizure susceptibility. Additionally, while the expression of the absence seizure phenotype was very sensitive to mouse background genetics, the thermal seizure phenotype was not.
conclusionsOur results show that a single gene mutation can cause distinct seizure phenotypes through independent molecular mechanisms. A lack of effect of genetic background on thermal seizure susceptibility is consistent with the higher penetrance of febrile seizures compared to absence seizures seen in family members with the mutation. These mouse studies help to provide a conceptual framework within which clinical heterogeneity seen in genetic epilepsy can be explained.
Indexed as
Identifiers
What OpenQuestion holds
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.