ArticleAnnals of neurology2019
Spectrum of K
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Article in Annals of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33citing papers in PubMed
6.6field-weighted citation impact, top 3% of its field
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Who cites it
33 citing papers in PubMed, 69 citations in OpenAlex.
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- Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.American journal of human genetics · 2024Article
- Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.The Journal of general physiology · 2023Article
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- KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.Annals of neurology · 2023Article
- Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.International journal of molecular sciences · 2023Review
- Epilepsy-associatedbioRxiv : the preprint server for biology · 2023Article
- Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.Epilepsia · 2022Review
- 'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.Trends in pharmacological sciences · 2022Review
- The AMIGO1 adhesion protein activates Kv2.1 voltage sensors.Biophysical journal · 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
- AFrontiers in pharmacology · 2022Article
- EVAP: A two-photon imaging tool to study conformational changes in endogenous Kv2 channels in live tissues.The Journal of general physiology · 2021Article
- Hypoxia with inflammation and reperfusion alters membrane resistance by dynamically regulating voltage-gated potassium channels in hippocampal CA1 neurons.Molecular brain · 2021Article
Corrections and comments
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Authors and funding
32 authors at 17 institutions in 3 countries.
Seok Kyu KangDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.ORCID 0000-0001-9286-7063
Carlos G VanoyeDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Sunita N MisraDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Dennis M EchevarriaDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Jeffrey D CalhounDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
John B O'ConnorAnn & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Katarina L FabreDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Dianalee McKnightGeneDX, Gaithersburg, MD.
Laurie DemmerDepartment of Pediatrics, Atrium Health's Levine Children's Hospital, Charlotte, NC.
Paula GoldenbergMedical Genetics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA.
Lauren E GroteDivision of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO.
Isabelle ThiffaultUniversity of Missouri-Kansas City School of Medicine, Kansas City, MO.
Carol SaundersUniversity of Missouri-Kansas City School of Medicine, Kansas City, MO.
Kevin A StraussClinic for Special Children, Strasburg, PA.
Ali TorkamaniScripps Translational Science Institute and Scripps Research Institute, La Jolla, CA.
Jasper van der SmagtDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Koen van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Robert P CarsonMonroe Carell Jr Children's Hospital at Vanderbilt, Nashville, TN.
Jullianne DiazRare Disease Institute, Children's National Medical Center, Washington, DC.
Eyby LeonRare Disease Institute, Children's National Medical Center, Washington, DC.
Joseph E JacherDivision of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI.
Mark C HannibalDivision of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI.
Jessica LitwinUniversity of California, San Francisco Benioff Children's Hospital, San Francisco, CA.
Neil R FriedmanCleveland Clinic Children's, Cleveland, OH.
Allison SchreiberCleveland Clinic Children's, Cleveland, OH.
Bryan LynchDepartment of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.
Annapurna PoduriEpilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA.
Eric D MarshDivision of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0003-3264-0902
Ethan M GoldbergDivision of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0002-7404-735X
John J MillichapDepartments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
Alfred L GeorgeDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.
Jennifer A KearneyDepartments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.ORCID 0000-0003-1726-4769
Northwestern University · USChildren's Mercy Hospital · USChildren's Hospital of Philadelphia · USChildren's National · USCleveland Clinic · USUniversity Medical Center Utrecht · NLUniversity of Michigan · USBoston Children's Hospital · USClinic for Special Children · USGenVec · USHarvard University · USLevine Children's Hospital · USLurie Children's Hospital · USMonroe Carell Jr. Children's Hospital · USScripps Research Institute · USTemple Street Children's University Hospital · IEUniversity of California, San Francisco · US
Funding
Northwestern University Clinical and Translational Science Institute (NUCATS)UL1TR001422 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI D'AQUILA, RICHARD · 2015 to 2023
$56.8MScripps Translational Science InstituteUL1TR001114 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2013 to 2017
$24.0MProject 3 - Development and investigation of murine models of channelopathy-associated epilepsyU54NS108874 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KISKINIS, EVANGELOS · 2018 to 2022
$12.1MThe Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI YUDKOFF, MARC · 2016 to 2020
$6.3MCombined Approach to the Genetic Basis of EpilepsyR01NS053792 · NINDS · VANDERBILT UNIVERSITY · PI KEARNEY, JENNIFER A · 2006 to 2019
$4.7MDynamic two-photon calcium imaging and optogenetic manipulation of epileptic brain circuits in an experimental model of temporal lobe epilepsyK08NS097633 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDBERG, ETHAN M · 2016 to 2020
$921kAmerican Epilepsy SocietyAnn & Robert H. Lurie Children's Hospital of Chicago Precision Medicine InitiativeNCATS NIH HHS UL1 TR001114NCATS NIH HHS UL1 TR001422NICHD NIH HHS U54 HD086984NINDS NIH HHS K08 NS097633NINDS NIH HHS R01 NS053792NINDS NIH HHS U54 NS108874Pediatric Physician-Scientist Research AwardScripps Research Translational InstituteTranslational Research Program, Boston Children's Hospital
Abstract
objectivePathogenic variants in KCNB1, encoding the voltage-gated potassium channel K
methodsWe evaluated a series of 17 KCNB1 variants associated with DEE or other neurodevelopmental disorders (NDDs) to rapidly ascertain channel dysfunction using high-throughput functional assays. Specifically, we investigated the biophysical properties and cell-surface expression of variant K
resultsPathogenic variants exhibited diverse functional defects, including altered current density and shifts in the voltage dependence of activation and/or inactivation, as homotetramers or when coexpressed with wild-type K
interpretationOur study establishes a platform for rapid screening of K
Indexed as
Amino Acid SequenceAnimalsCHO CellsCricetinaeCricetulusGenetic VariationHigh-Throughput Screening AssaysHumansNeurodevelopmental DisordersProtein Structure, SecondaryShab Potassium ChannelsKCNB1 protein, humanShab 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.