ReviewEpilepsy research2017
Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.
Review in Epilepsy research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- 4-Phenylbutyrate Rescue inCells · 2026Article
- Sleep Duration and Epilepsy Risk: Mendelian Randomization and Functional Validation of CACNA1A rs2228130-Related Inhibitory Synaptic Dysfunction.Neuromolecular medicine · 2026Article
- 4-Phenylbutyrate Rescue inbioRxiv : the preprint server for biology · 2026Article
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Multi-target neuroprotection of carbon dots derived from Crinis Carbonisatus in multiple acute epilepsy model.Frontiers in molecular biosciences · 2026Article
- 4-Phenylbutyrate restored GABA uptake, mitigated seizures in SLC6A1 and SLC6A11 microdeletions/3p- syndrome: From cellular models to human patients.Epilepsy research · 2025Article
- A review on epilepsy, current treatments, and potential of medicinal plants as an alternative treatment.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Review
- Review
- A narrative review on traditional Chinese medicine prescriptions and bioactive components in epilepsy treatment.Annals of translational medicine · 2023Review
- Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies.Orphanet journal of rare diseases · 2023Article
- Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.Nature communications · 2022Article
- Parvalbumin Role in Epilepsy and Psychiatric Comorbidities: From Mechanism to Intervention.Frontiers in integrative neuroscience · 2022Review
- Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.Frontiers in molecular biosciences · 2022Review
- Urinary Neurotransmitter Patterns Are Altered in Canine Epilepsy.Frontiers in veterinary science · 2022Article
- Regulation of Inhibitory Signaling at the Receptor and Cellular Level; Advances in Our Understanding of GABAergic Neurotransmission and the Mechanisms by Which It Is Disrupted in Epilepsy.Frontiers in synaptic neuroscience · 2022Review
- Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.Brain : a journal of neurology · 2021Article
- Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD.Experimental neurology · 2021Article
- Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy.International journal of molecular sciences · 2021Review
- Proteomic differences in the hippocampus and cortex of epilepsy brain tissue.Brain communications · 2021Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
Seizure disorders are very common and affect 3% of the general population. The recurrent unprovoked seizures that are also called epilepsies are highly diverse as to both underlying genetic basis and clinic presentations. Recent genetic advances and sequencing technologies indicate that many epilepsies previously thought to be without known causes, or idiopathic generalized epilepsies (IGEs), are virtually genetic epilepsy as they are caused by genetic variations. IGEs are estimated to account for ∼15-20% of all epilepsies. Initially IGEs were primarily considered channelopathies, because the first genetic defects identified in IGEs involved ion channel genes. However, new findings indicate that mutations in many non ion channel genes are also involved in addition to those in ion channel genes. Interestingly, mutations in many genes associated with epilepsy affect GABAergic signaling, a major biological pathway in epilepsy. Additionally, many antiepileptic drugs work via enhancing GABAergic signaling. Hence, the review will focus on the mutations that impair GABAergic signaling and selectively discuss the newly identified STXBP1, PRRT2, and DNM1 in addition to those long-established epilepsy ion channel genes that also impair GABAergic signaling like SCN1A and 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.