ArticleNeurobiology of disease2021
Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.
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Article in Neurobiology of disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
1.3field-weighted citation impact, top 19% of its field
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Pathological gain-of-function human variants in the GRIK2 kainate receptor gene cause wide-ranging behavioral dysfunction and seizures in mouse models.Neurobiology of disease · 2026Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Distinct Electrophysiological Signatures Define Neuronal Subtypes in the Fasciola Cinereum.bioRxiv : the preprint server for biology · 2025Article
- kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation.Epilepsia · 2025Article
- Abnormal cytoskeletal remodeling but normal neuronal excitability in a mouse model of the recurrent developmental and epileptic encephalopathy-susceptibility KCNB1-p.R312H variant.Communications biology · 2024Article
- Genomics of severe and treatment-resistant obsessive-compulsive disorder treated with deep brain stimulation: A preliminary investigation.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2024Article
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- Innovative drug discovery strategies in epilepsy: integrating next-generation syndrome-specific mouse models to address pharmacoresistance and epileptogenesis.Expert opinion on drug discovery · 2024Review
- Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.Neurobiology of disease · 2024Article
- Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.American journal of human genetics · 2024Article
- CRISPR/Cas9 system and its applications in nervous system diseases.Genes & diseases · 2024Review
- TheGenes · 2023Article
- Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022.Genes · 2022Review
- Increased KCells · 2022Article
- Phenotypes, mechanisms and therapeutics: insights from bipolar disorder GWAS findings.Molecular psychiatry · 2022Review
- Mechanism of use-dependent Kv2 channel inhibition by RY785.The Journal of general physiology · 2022Article
- Kv2.1 Potassium Channels Regulate Repetitive Burst Firing in Extratelencephalic Neocortical Pyramidal Neurons.Cerebral cortex (New York, N.Y. : 1991) · 2022Article
- The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.Frontiers in psychiatry · 2022Article
- Correlation Analyses of Clinical Manifestations and Variant Effects inFrontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Nicole A HawkinsDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America.
Sunita N MisraDepartment of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America; Ann & Robert H. Lurie Children's Hospital of Chicago Chicago, IL 60611, United States of America.
Manuel JuradoDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America.
Seok Kyu KangDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America.
Nicholas C VierraDepartment of Neurobiology, Physiology and Behavior, University of California, Davis, CA 95616, United States of America; Department of preceding Physiology and Membrane Biology, University of California, Davis, CA 95616, United States of America.
Kimberly NguyenDepartment of Neurobiology, Physiology and Behavior, University of California, Davis, CA 95616, United States of America.
Lisa WrenDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America.
Alfred L GeorgeDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America.
James S TrimmerDepartment of Neurobiology, Physiology and Behavior, University of California, Davis, CA 95616, United States of America; Department of preceding Physiology and Membrane Biology, University of California, Davis, CA 95616, United States of America.
Jennifer A KearneyDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America. Electronic address: jennifer.kearney@northwestern.edu.
Northwestern University · USUniversity of California, Davis · US
Funding
Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LEONIDAS C. PLATANIAS · 1993 to 2026
$153.9MProject 3 - Development and investigation of murine models of channelopathy-associated epilepsyU54NS108874 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI VANOYE, CARLOS G. · 2018 to 2022
$12.1MNorthwestern University Clinical and Translational Science Institute (NUCATS)KL2TR001424 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SHARMA, LEENA · 2015 to 2023
$8.1MCombined Approach to the Genetic Basis of EpilepsyR01NS053792 · NINDS · VANDERBILT UNIVERSITY · PI KEARNEY, JENNIFER A · 2006 to 2019
$4.7MNeuronal Kv2.1 Potassium Channels as Organizers of Somatic L-Type Calcium Channel MicrodomainsR01NS114210 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI DICKSON, EAMONN JAMES, SANTANA, LUIS F · 2020 to 2024
$2.3MDynamic modulation of ionic and lipid signaling by neuronal Kv2 channelsF32NS108519 · NINDS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI VIERRA, NICHOLAS CATIN · 2018 to 2020
$168kNCATS NIH HHS KL2 TR001424NCI NIH HHS P30 CA060553NINDS NIH HHS F32 NS108519NINDS NIH HHS R01 NS053792NINDS NIH HHS R01 NS114210NINDS NIH HHS U54 NS108874
Abstract
Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually present with intractable seizures, developmental delay, and often have elevated risk for premature mortality. Numerous genes have been identified as a monogenic cause of DEE, including KCNB1. The voltage-gated potassium channel K
Indexed as
Disease Models, AnimalAnimalsEpileptic SyndromesGene Knock-In TechniquesHEK293 CellsHumansMiceMutation, MissenseShab Potassium ChannelsKCNB1 protein, humanShab Potassium ChannelsAutism spectrum disorderDevelopmental disorderEncephalopathyEpilepsyK(V)2.1Voltage-gated ion channelsVoltage-gated potassium channels
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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.