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Author Details

Carlos G Vanoye
Feinberg School of Medicine, Northwestern University
1990
91
35
PMIDPaper TitleJournal TitlePublished Year
36865317Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional Properties.bioRxiv2023
38014225Molecular and Cellular Context Influences SCN8A Variant Function.bioRxiv2023
37578743Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.J Gen Physiol2023
35104249High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.JCI Insight2022
35442947Predicting the functional impact of KCNQ1 variants with artificial neural networks.PLoS Comput Biol2022
35602957Cholesterol-induced suppression of Kir2 channels is mediated by decoupling at the inter-subunit interfaces.iScience2022
34930020Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.Circulation2022
34092082Targeting the Microtubule EB1-CLASP2 Complex Modulates Na<sub>V</sub>1.5 at Intercalated Discs.Circ Res2021
33600800Disease-linked supertrafficking of a potassium channel.J Biol Chem2021
33544076Dyshomeostatic modulation of Ca<sup>2+</sup>-activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy.Elife2021
34379075Genomic Autopsy of Sudden Deaths in Young Individuals.JAMA Cardiol2021
34120723Functional evaluation of human ion channel variants using automated electrophysiology.Methods Enzymol2021
31593778Decoding KCNH2 variants of unknown significance.Heart Rhythm2020
32004091Long QT Syndrome Type 1 in an Australian Indigenous Patient.Circ Genom Precis Med2020
33095155Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.Elife2020
32665705Publisher Correction: Cross-site and cross-platform variability of automated patch clamp assessments of drug effects on human cardiac currents in recombinant cells.Sci Rep2020
32310223Striatal Kir2 K+ channel inhibition mediates the antidyskinetic effects of amantadine.J Clin Invest2020
32431610Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.Front Pharmacol2020
32221320Cross-site and cross-platform variability of automated patch clamp assessments of drug effects on human cardiac currents in recombinant cells.Sci Rep2020
31600826Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.Ann Neurol2019
31560846Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.Ann Clin Transl Neurol2019
31213528Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.J Biol Chem2019
31518351Upgraded molecular models of the human KCNQ1 potassium channel.PLoS One2019
29532034Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.Sci Adv2018
29881912Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.Forensic Sci Med Pathol2018
30571187High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.Circ Genom Precis Med2018
28530638Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.J Clin Invest2017
28235671SCN3A deficiency associated with increased seizure susceptibility.Neurobiol Dis2017
29021305Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.Circ Cardiovasc Genet2017
29264390Characterization of a <i>KCNB1</i> variant associated with autism, intellectual disability, and epilepsy.Neurol Genet2017
28749435Allelic Complexity in Long QT Syndrome: A Family-Case Study.Int J Mol Sci2017
27136942Use-Dependent Block of Human Cardiac Sodium Channels by GS967.Mol Pharmacol2016
27626070Structural basis for KCNE3 modulation of potassium recycling in epithelia.Sci Adv2016
25926456Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells.J Neurosci2015
25856502Personalized biochemistry and biophysics.Biochemistry2015
24157691Novel SCN3A variants associated with focal epilepsy in children.Neurobiol Dis2014
25053638SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.Cardiovasc Res2014
25164438De novo KCNB1 mutations in epileptic encephalopathy.Ann Neurol2014
24862204Antiepileptic activity of preferential inhibitors of persistent sodium current.Epilepsia2014
24606221Purification and structural study of the voltage-sensor domain of the human KCNQ1 potassium ion channel.Biochemistry2014
24434335Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.Neurobiol Dis2014
23359282Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling.J Gen Physiol2013
24006450Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation.Circ Arrhythm Electrophysiol2013
21118809KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1.J Biol Chem2011
22085289Reconstitution of KCNE1 into lipid bilayers: comparing the structural, dynamic, and activity differences in micelle and vesicle environments.Biochemistry2011
21296569Working model for the structural basis for KCNE1 modulation of the KCNQ1 potassium channel.Curr Opin Struct Biol2011
21402906Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.Proc Natl Acad Sci U S A2011
20044833Functional delivery of a membrane protein into oocyte membranes using bicelles.Biochemistry2010
20139709KCNQ1/KCNE1 assembly, co-translation not required.Channels (Austin)2010
19029186KCNE4 domains required for inhibition of KCNQ1.J Physiol2009
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Collaborators

Alfred L George
Northwestern University Feinberg School of Medicine
Co-authored papers 62
Jens Meiler
Vanderbilt University
Co-authored papers 12
Jennifer A Kearney
Feinberg School of Medicine, Northwestern University
Co-authored papers 8
John J Millichap
Feinberg School of Medicine, Northwestern University
Co-authored papers 5
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 3
Keenan C Taylor
Vanderbilt University
Co-authored papers 3
Benjamin S Jorge
Vanderbilt University
Co-authored papers 3
Digna R Velez Edwards
Vanderbilt University Medical Center
Co-authored papers 2
Ingo Helbig
Children's Hospital of Philadelphia
Co-authored papers 2
Ali Torkamani
Scripps Science Institute
Co-authored papers 2
Scott M Williams
Case Western Reserve University School of Medicine
Co-authored papers 2
Andrew R Tapper
Co-authored papers 2
Kevin Bersell
Vanderbilt University
Co-authored papers 1
Iftikhar J Kullo
Mayo Clinic
Co-authored papers 1
James D Ralston
University of Washington.
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Sunghwan Sohn
Mayo Clinic
Co-authored papers 1
Kevin A Strauss
Co-authored papers 1
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Co-authored papers 1
Christopher B Burge
Co-authored papers 1
Megan J Puckelwartz
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
Co-authored papers 1
Jennifer A Pacheco
University of Pennsylvania
Co-authored papers 1
Tess D Pottinger
Columbia University Irving Medical Center
Co-authored papers 1
Fanggeng Zou
Cincinnati Children's Hospital Medical Center
Co-authored papers 1
Gail P Jarvik
University of Washington Medical Center
Co-authored papers 1
David S Carrell
Kaiser Permanente Washington Health Research Institute
Co-authored papers 1
Cinnamon Bloss
University of California
Co-authored papers 1
Bo Hu
Northwestern University Feinberg School of Medicine
Co-authored papers 1
Christian M Shaffer
Vanderbilt University
Co-authored papers 1
Quinn S Wells
Vanderbilt University Medical Center
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Moore Benjamin Shoemaker
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Release 1.2