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Author Details

Alfred L George
Northwestern University Feinberg School of Medicine
1978
370
86
PMIDPaper TitleJournal TitlePublished Year
36865317Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional Properties.bioRxiv2023
37562820Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions.Epilepsia2023
38014225Molecular and Cellular Context Influences SCN8A Variant Function.bioRxiv2023
37884512RNA-based translation activators for targeted gene upregulation.Nat Commun2023
37578743Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.J Gen Physiol2023
37034657The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.medRxiv2023
37267104Scanning mutagenesis of the voltage-gated sodium channel Na<sub>V</sub>1.2 using base editing.Cell Rep2023
36808153Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.Nat Commun2023
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
35543700Discordance Between Germline and Blood Mosaicism in Calmodulinopathy.Circ Genom Precis Med2022
35346832K<sub>Na</sub>1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons.Neurobiol Dis2022
35602957Cholesterol-induced suppression of Kir2 channels is mediated by decoupling at the inter-subunit interfaces.iScience2022
35427475'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.Trends Pharmacol Sci2022
35751960Genetic Testing and Hospital Length of Stay in Neonates With Epilepsy.Pediatr Neurol2022
35716052Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.Epilepsia2022
35417922Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.Hum Mol Genet2022
35894600High-Dose Midazolam for Pediatric Refractory Status Epilepticus: A Single-Center Retrospective Study.Pediatr Crit Care Med2022
36094046Changes in Sertraline Plasma Concentrations Across Pregnancy and Postpartum.Clin Pharmacol Ther2022
36254188Trajectories of Depressive and Anxiety Symptoms Across Pregnancy and Postpartum in Selective Serotonin Reuptake Inhibitor-Treated Women.Psychiatr Res Clin Pract2022
35225649Novel <i>CALM3</i> Variant Causing Calmodulinopathy With Variable Expressivity in a 4-Generation Family.Circ Arrhythm Electrophysiol2022
35284934Family Screening After Sudden Death in a Population-Based Study of Children.Pediatrics2022
35276091Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls.Stem Cell Reports2022
34930020Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.Circulation2022
35195661Factors Affecting Yield of Genetic Testing of Sudden Deaths in Young Individuals-Reply.JAMA Cardiol2022
33132203Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.Neurobiol Dis2021
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
34719257Understanding Circadian Mechanisms of Sudden Cardiac Death: A Report From the National Heart, Lung, and Blood Institute Workshop, Part 2: Population and Clinical Considerations.Circ Arrhythm Electrophysiol2021
34719240Understanding Circadian Mechanisms of Sudden Cardiac Death: A Report From the National Heart, Lung, and Blood Institute Workshop, Part 1: Basic and Translational Aspects.Circ Arrhythm Electrophysiol2021
34120723Functional evaluation of human ion channel variants using automated electrophysiology.Methods Enzymol2021
34092082Targeting the Microtubule EB1-CLASP2 Complex Modulates Na<sub>V</sub>1.5 at Intercalated Discs.Circ Res2021
34287911Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.J Physiol2021
34003581Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.Am J Med Genet A2021
33460646Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria.J Biol Chem2021
31593778Decoding KCNH2 variants of unknown significance.Heart Rhythm2020
32081407Pharmacogenomics in pregnancy.Semin Perinatol2020
32027092The sodium channel Na<sub>X</sub> : Possible player in excitation-contraction coupling.IUBMB Life2020
31995133Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.J Gen Physiol2020
31928950Negligible-Cost and Weekend-Free Chemically Defined Human iPSC Culture.Stem Cell Reports2020
32096762Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.Elife2020
32004091Long QT Syndrome Type 1 in an Australian Indigenous Patient.Circ Genom Precis Med2020
33211795Different arrhythmia-associated calmodulin mutations have distinct effects on cardiac SK channel regulation.J Gen Physiol2020
33095155Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.Elife2020
32885733Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.J Am Heart Assoc2020
32938719GS-967 and Eleclazine Block Sodium Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Mol Pharmacol2020
32931730Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity.Cell Stem Cell2020
32750235Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.Ann Clin Transl Neurol2020
32310223Striatal Kir2 K+ channel inhibition mediates the antidyskinetic effects of amantadine.J Clin Invest2020
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Collaborators

Carlos G Vanoye
Feinberg School of Medicine, Northwestern University
Co-authored papers 62
Dan M Roden
Vanderbilt University Medical Center
Co-authored papers 33
Jennifer A Kearney
Feinberg School of Medicine, Northwestern University
Co-authored papers 17
Jens Meiler
Vanderbilt University
Co-authored papers 14
John J Millichap
Feinberg School of Medicine, Northwestern University
Co-authored papers 7
Walter J Chazin
and Center for Structural Biology, Vanderbilt University
Co-authored papers 6
Michael J Ackerman
Mayo Clinic, Windland Smith Rice Genetic Heart Rhythm Clinic)
Co-authored papers 6
Christian M Shaffer
Vanderbilt University
Co-authored papers 5
Laura J Rasmussen-Torvik
Northwestern University, Center for Genetic Medicine
Co-authored papers 5
Andrew R Tapper
Co-authored papers 5
Megan J Puckelwartz
Center for Genetic Medicine, Northwestern University Feinberg School of Medicine
Co-authored papers 4
Marylyn D Ritchie
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 4
Cristobal G Dos Remedios
Victor Chang Cardiac Research Institute
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Keenan C Taylor
Vanderbilt University
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Dana C Crawford
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 4
Michiel E Adriaens
Maastricht University
Co-authored papers 4
Martin Tristani-Firouzi
Co-authored papers 4
Mark F Leppert
University of Utah
Co-authored papers 3
Jody D Ciolino
Northwestern University Feinberg School of Medicine
Co-authored papers 3
Ingo Helbig
Children's Hospital of Philadelphia
Co-authored papers 3
Jonathan L Haines
Cleveland Institute for Computational Biology, Case Western Reserve University
Co-authored papers 3
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Co-authored papers 3
Peter Lichtner
Co-authored papers 3
Kathryn J Swoboda
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 3
Kevin J Bender
University of California san francisco
Co-authored papers 3
Deborah A Nickerson
University of Washington
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Lauren C Balmert
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Frank A J L Scheer
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Release 1.2