ArticleEuropean journal of human genetics : EJHG2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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.
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Who cites it
26 citing papers in PubMed, 45 citations in OpenAlex.
- Serotonin neurons in the dorsal raphe control food-craving-like behavior during pregnancy in mice.Nature neuroscience · 2026Article
- The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics.Brain : a journal of neurology · 2026Review
- Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol.BMC oral health · 2025Article
- Fine-mapping genomic loci refines bipolar disorder risk genes.Nature neuroscience · 2025Article
- Aggregating single nucleotide polymorphisms improves filtering for false-positive associations postimputation.G3 (Bethesda, Md.) · 2025Article
- microRNA-218-5p coordinates scaling of excitatory and inhibitory synapses during homeostatic synaptic plasticity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Functional validation of human SK channels variants causing NEDMAB and Zimmermann-Laband syndrome-3 inBrain communications · 2025Article
- Transcriptomic Profiling of Human Myocardium at Sudden Death to Define Vulnerable Substrate for Lethal Arrhythmias.JACC. Clinical electrophysiology · 2025Article
- Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.HGG advances · 2024Article
- Article
- Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.European journal of human genetics : EJHG · 2024Article
- The scale of zebrafish pectoral fin buds is determined by intercellular K+ levels and consequent Ca2+-mediated signaling via retinoic acid regulation of Rcan2 and Kcnk5b.PLoS biology · 2024Article
- A sexually dimorphic signature of activity-dependent BDNF signaling on the intrinsic excitability of pyramidal neurons in the prefrontal cortex.Frontiers in cellular neuroscience · 2024Article
- Identification of a novelFrontiers in genetics · 2024Article
- KCNK4-related channelopathy causing a neurodevelopmental syndrome.BMJ case reports · 2023Article
- Distinguishing Loss-of-Function and Gain-of-FunctionNeurology. Genetics · 2023Article
- Plasticity manifolds and degeneracy govern circadian oscillations of neuronal intrinsic properties in the suprachiasmatic nucleus.iScience · 2023Article
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofNeurology · 2023Article
- CaMolecules (Basel, Switzerland) · 2023Review
- KCurrent neuropharmacology · 2023Review
Corrections and comments
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Authors and funding
19 authors at 12 institutions in 5 countries.
Funding
Abstract
Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K
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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.