ArticleAnnals of neurology2012
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
Article in Annals of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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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
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Genetic regulation of gene expression in the epileptic human hippocampus.Human molecular genetics · 2017Pooled it
- Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy.Epilepsia · 2025Article
- Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.Acta pharmacologica Sinica · 2023Article
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- Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.eLife · 2022Article
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- KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.Frontiers in neurology · 2022Article
- Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges.Neuromolecular medicine · 2021Review
- Dyshomeostatic modulation of CaeLife · 2021Article
- Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.Pflugers Archiv : European journal of physiology · 2020Review
- A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.Epilepsia · 2020Article
- Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.Genes, brain, and behavior · 2020Article
- TwoFrontiers in physiology · 2020Article
- KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report.Frontiers in neurology · 2020Article
- Neonatal Encephalopathies: A Clinical Perspective.Cureus · 2019Review
- Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.The Journal of general physiology · 2019Article
- AFrontiers in pediatrics · 2019Article
- Reduced axonal surface expression and phosphoinositide sensitivity in KNeurobiology of disease · 2018Article
- Novel and de novo mutations in pediatric refractory epilepsy.Molecular brain · 2018Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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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.