ArticleScientific reports2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
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Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40citing papers in PubMed
3.6field-weighted citation impact, top 6% of its field
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Who cites it
40 citing papers in PubMed, 65 citations in OpenAlex.
- Assessment of gabapentin efficacy in patients with KCNQ2-developmental epileptic encephalopathy.Scientific reports · 2026Article
- AProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Review
- Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KEpilepsia open · 2026Article
- Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Molecular dynamics of the pathogenic KCNQ2 variant G256W reveal mechanisms of channel dysfunction in epileptic encephalopathy.bioRxiv : the preprint server for biology · 2025Article
- Biophysical and structural mechanisms of epilepsy-associated mutations in the S4-S5 Linker of KCNQ2 channels.Channels (Austin, Tex.) · 2025Article
- Article
- 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
- In vitro human cell culture models in a bench-to-bedside approach to epilepsy.Epilepsia open · 2024Review
- Newly discovered variants in unexplained neonatal encephalopathy.Molecular genetics & genomic medicine · 2024Article
- The PFC-LH-VTA pathway contributes to social deficits in IRSp53-mutant mice.Molecular psychiatry · 2023Article
- Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.Acta pharmacologica Sinica · 2023Article
- Kv7/KCNQ potassium channels in cortical hyperexcitability and juvenile seizure-related death in Ank2-mutant mice.Nature communications · 2023Article
- Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants.Scientific reports · 2023Article
- Mouse models of Kcnq2 dysfunction.Epilepsia · 2022Review
- Article
- High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.JCI insight · 2022Article
- Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Jiaren Zhang *Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Eung Chang Kim *Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Congcong Chen *Department of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Erik ProckoDepartment of Biochemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.ORCID http://orcid.org/0000-0002-0028-490X
Shashank PantDepartment of Biochemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.ORCID http://orcid.org/0000-0002-8222-3616
Kin LamDepartment of Biochemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Jaimin PatelDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Rebecca ChoiDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Mary HongDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Dhruv JoshiDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Eric BoltonDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.
Emad TajkhorshidDepartment of Biochemistry, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA.ORCID http://orcid.org/0000-0001-8434-1010
Hee Jung ChungDepartment of Molecular and Integrative Physiology, University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801, USA. chunghj@illinois.edu.ORCID http://orcid.org/0000-0002-5555-9907
University of Illinois Urbana-Champaign · US
Funding
WHOLE CELL SIMULATIONP41GM104601 · NIGMS · UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN · PI SCHULTEN, KLAUS · 2012 to 2021
$19.0MToolkit for High-Resolution Structure and Dynamics of Functional LipidsR01GM123455 · NIGMS · UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN · PI MORRISSEY, JAMES H., RIENSTRA, CHAD M · 2016 to 2020
$5.0MTuning neuronal excitability by axonal targeting of Kv7 channelsR01NS083402 · NINDS · UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN · PI CHUNG, HEE JUNG · 2015 to 2019
$1.7MNIGMS NIH HHS P41 GM104601NIGMS NIH HHS R01 GM123455NINDS NIH HHS R01 NS083402
Abstract
K
Indexed as
Genetic Association StudiesMutationAnimalsCHO CellsCricetinaeCricetulusEpilepsyHEK293 CellsHippocampusHumansKCNQ2 Potassium ChannelPhosphatidylinositol 4,5-DiphosphateXenopus laevisKCNQ2 Potassium ChannelPhosphatidylinositol 4,5-Diphosphate
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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.