ArticleEpilepsia2019
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
Article in Epilepsia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 108 citations in OpenAlex.
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- KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.Epilepsia open · 2026Article
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- Novel proteolytic post-translational modification in voltage-gated potassium channel KCNQ2.Scientific reports · 2026Article
- Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KEpilepsia open · 2026Article
- Biophysical and structural mechanisms of epilepsy-associated mutations in the S4-S5 Linker of KCNQ2 channels.Channels (Austin, Tex.) · 2025Article
- TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.Nature neuroscience · 2025Article
- Recent advances in the pharmacology of voltage-gated ion channels.Pharmacological reviews · 2025Review
- Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.European journal of human genetics : EJHG · 2025Article
- A case of early epileptic encephalopathy caused by new mutation at W218C inBiochemistry and biophysics reports · 2025Article
- Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy.Epilepsia · 2025Article
- In vitro human ion channel assays predictive of drug-induced seizure.Toxicological sciences : an official journal of the Society of Toxicology · 2025Article
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- NovelInternational journal of molecular sciences · 2024Article
- Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.Epilepsia open · 2024Article
- Plural molecular and cellular mechanisms of pore domainbioRxiv : the preprint server for biology · 2024Article
- MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of MissenseInternational journal of molecular sciences · 2024Article
- A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Newly discovered variants in unexplained neonatal encephalopathy.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
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Abstract
objectivePathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants.
methodsKCNQ2 pathogenic variants were collected from in-house data and two large disease databases with their clinical phenotypes. Nonpathogenic KCNQ2 variants were collected from the Genome Aggregation Database (gnomAD). Pathogenicity of all variants was reevaluated with clinical information to exclude irrelevant variants. The cumulative distribution plots of B(F)NE, KCNQ2 DEE, and gnomAD KCNQ2 variants were compared. Several algorithms predicting genetic variant pathogenicity were evaluated.
resultsA total of 259 individuals or pedigrees with 216 different pathogenic KCNQ2 variants and 2967 individuals with 247 different nonpathogenic variants were deemed eligible for the study. Compared to the distribution of nonpathogenic variants, B(F)NE and KCNQ2 DEE missense variants occurred in five and three specific KCNQ2 regions, respectively. Comparison between B(F)NE and KCNQ2 DEE sets showed that B(F)NE missense variants frequently localized to the intracellular domain between S2 and S3, whereas those of KCNQ2 DEE were more frequent in S6, and its adjacent pore domain, as well as in the intracellular domain between S6 and helix A. The scores of Protein Variation Effect Analyzer (PROVEAN) and Percent Accepted Mutation (PAM) 30 prediction algorithms were associated with phenotypes of the variant loci. SIGNIFICANCE: Missense variants in the intracellular domain between S2 and S3 are likely to cause B(F)NE, whereas those in S6 and its adjacent regions are more likely to cause KCNQ2 DEE. With such regional specificities of variants, PAM30 is a helpful tool to examine the possibility that a novel KCNQ2 variant is a B(F)NE or KCNQ2 DEE variant in genetic analysis.
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