ArticleCell reports2017
A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.
Article in Cell reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- KCNT1 Channel Blockers: A Medicinal Chemistry Perspective.Molecules (Basel, Switzerland) · 2024Review
- Article
- Potassium channel-related epilepsy: Pathogenesis and clinical features.Epilepsia open · 2024Review
- Mapping recurrent mosaic copy number variation in human neurons.Nature communications · 2024Article
- Increased Expression of KNeurochemical research · 2024Article
- Identification of a novelFrontiers in genetics · 2024Article
- Design, synthesis, and biological evaluation of a novel series of 1,2,4-oxadiazole inhibitors of SLACK potassium channels: Identification of in vitro tool VU0935685.Bioorganic & medicinal chemistry · 2023Article
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.Annals of neurology · 2023Article
- Article
- Double-edged Role of KCurrent neuropharmacology · 2022Review
- Expanding the phenotypic spectrum ofFrontiers in molecular neuroscience · 2022Article
- Slo2/KThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Sorting nexin-27 regulates AMPA receptor trafficking through the synaptic adhesion protein LRFN2.eLife · 2021Article
- TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.Human genomics · 2021Article
- Case Report: CausativeFrontiers in genetics · 2021Article
- Slo2 potassium channel function depends on RNA editing-regulated expression of a SCYL1 protein.eLife · 2020Article
- The Epilepsy of Infancy With Migrating Focal Seizures: Identification ofFrontiers in cellular neuroscience · 2020Article
- Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
Abstract
Early infantile epileptic encephalopathies (EOEE) are a debilitating spectrum of disorders associated with cognitive impairments. We present a clinical report of a KCNT2 mutation in an EOEE patient. The de novo heterozygous variant Phe240Leu SLICK was identified by exome sequencing and confirmed by Sanger sequencing. Phe240Leu rSlick and hSLICK channels were electrophysiologically, heterologously characterized to reveal three significant alterations to channel function. First, [Cl
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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.