ReviewPflugers Archiv : European journal of physiology2010
Mutations affecting GABAergic signaling in seizures and epilepsy.
Review in Pflugers Archiv : European journal of physiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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
33 citing papers in PubMed, 79 citations in OpenAlex.
- Genetic-Epigenetic Interplay in Epilepsy: Pathways, Biomarkers, and Epigenome-Targeted Therapies.Epigenomes · 2026Review
- Decreased GABA levels during development result in increased connectivity in the larval zebrafish tectum.bioRxiv : the preprint server for biology · 2024Article
- ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.Frontiers in molecular neuroscience · 2022Article
- Mechanisms of Psychiatric Comorbidities in Epilepsy.Current topics in behavioral neurosciences · 2022Article
- Neurotransmitter signaling regulates distinct phases of multimodal human interneuron migration.The EMBO journal · 2021Article
- Neonatal Seizures: An Overview of Genetic Causes and Treatment Options.Brain sciences · 2021Review
- Glial Chloride Channels in the Function of the Nervous System Across Species.Advances in experimental medicine and biology · 2021Article
- Article
- Differential Coassembly of α1-GABAThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- Ion channelopathies to bridge molecular lesions, channel function, and clinical therapies.Pflugers Archiv : European journal of physiology · 2020Article
- Review
- Searching basic units in memory traces: associative memory cells.F1000Research · 2019Review
- Synaptic metabolism: a new approach to inborn errors of neurotransmission.Journal of inherited metabolic disease · 2018Review
- Epileptogenesis in neonatal brain.Seminars in fetal & neonatal medicine · 2018Review
- Associative memory cells and their working principle in the brain.F1000Research · 2018Review
- Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.The Journal of physiology · 2016Article
- Genome-wide analysis reveals conserved transcriptional responses downstream of resting potential change in Xenopus embryos, axolotl regeneration, and human mesenchymal cell differentiation.Regeneration (Oxford, England) · 2016Article
- The desensitization gate of inhibitory Cys-loop receptors.Nature communications · 2015Article
- Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA.Neurology · 2014Article
- The molecular biology of genetic-based epilepsies.Molecular neurobiology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
The causes of epilepsies and epileptic seizures are multifactorial. Genetic predisposition may contribute in certain types of epilepsies and seizures, whether idiopathic or symptomatic of genetic origin. Although these are not very common, they have offered a unique opportunity to investigate the molecular mechanisms underlying epileptogenesis and ictogenesis. Among the implicated gene mutations, a number of GABAA receptor subunit mutations have been recently identified that contribute to several idiopathic epilepsies, febrile seizures, and rarely to certain types of symptomatic epilepsies, like the severe myoclonic epilepsy of infancy. Deletion of GABAA receptor genes has also been linked to Angelman syndrome. Furthermore, mutations of proteins controlling chloride homeostasis, which indirectly defines the functional consequences of GABAA signaling, have been identified. These include the chloride channel 2 (CLCN2) and the potassium chloride cotransporter KCC3. The pathogenic role of CLCN2 mutations has not been clearly demonstrated and may represent either susceptibility genes or, in certain cases, innocuous polymorphisms. KCC3 mutations have been associated with hereditary motor and sensory polyneuropathy with corpus callosum agenesis (Andermann syndrome) that often manifests with epileptic seizures. This review summarizes the recent progress in the genetic linkages of epilepsies and seizures to the above genes and discusses potential pathogenic mechanisms that contribute to the age, sex, and conditional expression of these seizures in carriers of these mutations.
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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.