Publications by authors named "Alfred L George"

100Publications

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Neurobiol Dis 2020 Oct 22;147:105141. Epub 2020 Oct 22.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.105141DOI Listing
October 2020

GS-967 and Eleclazine Block Sodium Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Mol Pharmacol 2020 11 16;98(5):540-547. Epub 2020 Sep 16.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois

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http://dx.doi.org/10.1124/molpharm.120.000048DOI Listing
November 2020

Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity.

Cell Stem Cell 2020 Nov 14;27(5):813-821.e6. Epub 2020 Sep 14.

Cardiovascular Institute and Department of Medicine, Stanford University, Stanford, CA 94305, USA; Graduate School of Biomedical Sciences, Sanford Burnham Prebys Medical Discovery Institute, San Diego, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stem.2020.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655512PMC
November 2020

Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.

J Am Heart Assoc 2020 Sep 4;9(18):e015699. Epub 2020 Sep 4.

Division of Cardiology Ann & Robert H. Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine Chicago IL.

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http://dx.doi.org/10.1161/JAHA.120.015699DOI Listing
September 2020

Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.

Ann Clin Transl Neurol 2020 Aug 4. Epub 2020 Aug 4.

Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.

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http://dx.doi.org/10.1002/acn3.51105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480906PMC
August 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Front Pharmacol 2020 4;11:550. Epub 2020 May 4.

Center for Structural Biology, Vanderbilt University School of Medicine Basic Sciences, Nashville, TN, United States.

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http://dx.doi.org/10.3389/fphar.2020.00550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212895PMC
May 2020

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.

Neurobiol Dis 2020 07 27;141:104881. Epub 2020 Apr 27.

Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN, USA; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2020.104881DOI Listing
July 2020

Impact of CYP2C9-Interacting Drugs on Warfarin Pharmacogenomics.

Clin Transl Sci 2020 09 9;13(5):941-949. Epub 2020 Apr 9.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1111/cts.12781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7485961PMC
September 2020

Pharmacogenomics in pregnancy.

Semin Perinatol 2020 Apr 25;44(3):151222. Epub 2020 Jan 25.

Department of Pharmacology and Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Searle 8-510, 320 East Superior Street, Chicago, IL 60611, USA. Electronic address:

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http://dx.doi.org/10.1016/j.semperi.2020.151222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214196PMC
April 2020

The sodium channel Na : Possible player in excitation-contraction coupling.

IUBMB Life 2020 04 6;72(4):601-606. Epub 2020 Feb 6.

Department of Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.

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http://dx.doi.org/10.1002/iub.2247DOI Listing
April 2020

Long QT Syndrome Type 1 in an Australian Indigenous Patient.

Circ Genom Precis Med 2020 04 31;13(2):e002813. Epub 2020 Jan 31.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (C.G.V., A.L.G.).

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http://dx.doi.org/10.1161/CIRCGEN.119.002813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416536PMC
April 2020

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.

J Gen Physiol 2020 03;152(3)

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.

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http://dx.doi.org/10.1085/jgp.201912442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054859PMC
March 2020

Negligible-Cost and Weekend-Free Chemically Defined Human iPSC Culture.

Stem Cell Reports 2020 02 9;14(2):256-270. Epub 2020 Jan 9.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.stemcr.2019.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013200PMC
February 2020

Decoding KCNH2 variants of unknown significance.

Heart Rhythm 2020 03 5;17(3):501-502. Epub 2019 Oct 5.

Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2019.10.009DOI Listing
March 2020

Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.

Ann Clin Transl Neurol 2019 09 15;6(9):1606-1615. Epub 2019 Jul 15.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1002/acn3.50847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764634PMC
September 2019

Upgraded molecular models of the human KCNQ1 potassium channel.

PLoS One 2019 13;14(9):e0220415. Epub 2019 Sep 13.

Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0220415PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743773PMC
March 2020

Cardiac Evaluation of Children With a Family History of Sudden Death.

J Am Coll Cardiol 2019 08;74(6):759-770

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.

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http://dx.doi.org/10.1016/j.jacc.2019.05.062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690372PMC
August 2019

Potentiating α subunit containing perisomatic GABA receptors protects against seizures in a mouse model of Dravet syndrome.

J Physiol 2019 08 20;597(16):4293-4307. Epub 2019 May 20.

Department of Physiology, Northwestern University, Chicago, IL, 60611, USA.

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http://dx.doi.org/10.1113/JP277651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7087452PMC
August 2019

Protein structure aids predicting functional perturbation of missense variants in and .

Comput Struct Biotechnol J 2019 1;17:206-214. Epub 2019 Feb 1.

Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1016/j.csbj.2019.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383132PMC
February 2019

High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circ Genom Precis Med 2018 11;11(11):e002345

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (C.G.V., R.R.D., K.L.F., S.L.G., F.P., J.-M.D., A.L.G.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309341PMC
November 2018

The importance of being selective.

Authors:
Alfred L George

Heart Rhythm 2019 02 25;16(2):279-280. Epub 2018 Sep 25.

Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15475271183094
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http://dx.doi.org/10.1016/j.hrthm.2018.09.022DOI Listing
February 2019

Modifier genes for sudden cardiac death.

Eur Heart J 2018 11;39(44):3925-3931

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Searle 8-510, East Superior Street, Chicago, IL, USA.

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http://dx.doi.org/10.1093/eurheartj/ehy502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247660PMC
November 2018

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.

Forensic Sci Med Pathol 2018 09 8;14(3):367-371. Epub 2018 Jun 8.

Section of Forensic Pediatric Medicine, Clinic of Laboratory Medicine, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1007/s12024-018-9989-3DOI Listing
September 2018

A Mechanism of Calmodulin Modulation of the Human Cardiac Sodium Channel.

Structure 2018 05 5;26(5):683-694.e3. Epub 2018 Apr 5.

Department of Biochemistry, Vanderbilt University, Nashville, TN 37205, USA; Department of Chemistry, Vanderbilt University, Nashville, TN 37235, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37232, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09692126183008
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http://dx.doi.org/10.1016/j.str.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932218PMC
May 2018

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.

Neurobiol Dis 2018 07 19;115:29-38. Epub 2018 Mar 19.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.03.009DOI Listing
July 2018

Characterization of a variant associated with autism, intellectual disability, and epilepsy.

Neurol Genet 2017 Dec 11;3(6):e198. Epub 2017 Dec 11.

Department of Pharmacology (J.D.C., C.G.V., A.L.G., J.A.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Human Genome and Stem Cell Research Center (F.K.), Biosciences Institute, University of Sao Paulo, Brazil; and Mendelics Análise Genomica (F.K.), Sao Paulo, Brazil.

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http://dx.doi.org/10.1212/NXG.0000000000000198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733249PMC
December 2017

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Chemistry (B.L., J.L.M., J.M.), Center for Structural Biology (B.L., J.L.M., B.M.K., K.C.T., H.H., C.R.S., J.M.), Department of Biochemistry (B.M.K., H.H., C.R.S.), and Department of Biostatistics (D.K.S., J.D.B.), Vanderbilt University, Nashville, TN; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN (B.M.K., C.R.S.); and Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (C.G.V., A.L.G.).

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5679743PMC
October 2017

Treatment of calmodulinopathy with verapamil.

BMJ Case Rep 2017 Aug 7;2017. Epub 2017 Aug 7.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1136/bcr-2017-220568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623240PMC
August 2017

Sodium channel NaV1.9 mutations associated with insensitivity to pain dampen neuronal excitability.

J Clin Invest 2017 Jun 22;127(7):2805-2814. Epub 2017 May 22.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

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https://www.jci.org/articles/view/92373
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http://dx.doi.org/10.1172/JCI92373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490760PMC
June 2017

Screening of conventional anticonvulsants in a genetic mouse model of epilepsy.

Ann Clin Transl Neurol 2017 05 26;4(5):326-339. Epub 2017 Apr 26.

Department of Pharmacology Northwestern University Feinberg School of Medicine Chicago Illinois.

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http://dx.doi.org/10.1002/acn3.413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420810PMC
May 2017

Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.

Sci Rep 2017 05 10;7(1):1682. Epub 2017 May 10.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

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http://dx.doi.org/10.1038/s41598-017-01851-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5431801PMC
May 2017

Research conference summary from the 2014 International Task Force on -Related Disorders.

Neurol Genet 2017 Apr 2;3(2):e139. Epub 2017 Mar 2.

Department of Pediatrics and Pediatric Neurology (H.R.), Georg August University, Göttingen, Germany; Division of Clinical Genetics (L.V.), Department of Pediatrics (T.N., M.T.S.) and Department of Neurology (M.T.S.), University of Utah, Salt Lake City; Center for Human Genetics (S.D.), University Hospitals and Case Western Reserve University, Cleveland, OH; Division of Pediatric Neurology (K.E.), Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN; Center for Human Genetics Research (L.O., M.M., K. Swoboda), Department of Neurology, Massachusetts General Hospital, Boston; Neurogenetics Unit (E.A.) and Epilepsy Research Group (E.A., F.A.), Montreal Neurological Hospital and Institute; Department of Neurology and Neurosurgery (E.A., F.A.), Department of Human Genetics (E.A.), and Department of Pediatrics (F.A.), McGill University, Quebec, Canada; Alternating Hemiplegia of Childhood Foundation (G.A., S.C., L.E., V.P.), Southfield, MI; BCBA (A. Belgrade), Belgrade Behavior Consulting, Chicago, IL; Department of Neurology (A. Brashear), Wake Forest School of Medicine, Winston-Salem, NC; Department of Pharmacology (A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics (A.L.), University of Florida College of Medicine, Jacksonville; Integrative Neuropsychology (J.M.), Fairlawn, OH; Association Française de l'Hémiplégie Alternante (D.P.), Paris, France; Rare Disease Innovation Unit (S.R.), Clinical Development Program, Biogen, Cambridge, MA; Department of Child Neurology (M.S.), National Center of Neurology and Psychiatry, Kodaira, Japan; Swedish Neuroscience Institute (M.S.d.M.), Swedish Medical Center, Seattle, WA; Department of Neurosurgery (K. Sweadner), Massachusetts General Hospital and Harvard Medical School, Boston; Neuroscience Institute (M.Z.), Children's Hospital of Orange County, CA; and Departments of Pediatrics and Neurology (K. Silver), University of Chicago and Comer Children's Hospital, Chicago, IL.

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http://dx.doi.org/10.1212/NXG.0000000000000139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335249PMC
April 2017

CaMKII modulates sodium current in neurons from epileptic mutant mice.

Proc Natl Acad Sci U S A 2017 02 30;114(7):1696-1701. Epub 2017 Jan 30.

Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611.

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http://dx.doi.org/10.1073/pnas.1615774114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321040PMC
February 2017

Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Sci Adv 2016 09 9;2(9):e1501228. Epub 2016 Sep 9.

Department of Biochemistry, Vanderbilt University, Nashville, TN 37240, USA.; Center for Structural Biology, Vanderbilt University, Nashville, TN 37240, USA.; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37240, USA.

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http://dx.doi.org/10.1126/sciadv.1501228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017827PMC
September 2016

Measuring Drug Metabolism Kinetics and Drug-Drug Interactions Using Self-Assembled Monolayers for Matrix-Assisted Laser Desorption-Ionization Mass Spectrometry.

Anal Chem 2016 09 12;88(17):8604-9. Epub 2016 Aug 12.

Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine , Chicago, Illinois 60611, United States.

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http://dx.doi.org/10.1021/acs.analchem.6b01750DOI Listing
September 2016

Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.

Heart Rhythm 2016 08 7;13(8):1716-23. Epub 2016 May 7.

Krannert Institute of Cardiology and Division of Cardiology, Department of Medicine, Indiana University, Indianapolis, Indiana. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2016.05.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958519PMC
August 2016

Use-Dependent Block of Human Cardiac Sodium Channels by GS967.

Mol Pharmacol 2016 07 2;90(1):52-60. Epub 2016 May 2.

Department of Pharmacology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois

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http://dx.doi.org/10.1124/mol.116.103358DOI Listing
July 2016

Misplaced brain sodium channels in heart kindle sudden death in epilepsy.

Authors:
Alfred L George

Circ Arrhythm Electrophysiol 2015 Aug;8(4):769-71

From the Department of Pharmacology and Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL.

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http://dx.doi.org/10.1161/CIRCEP.115.003261DOI Listing
August 2015

Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels.

Circ Arrhythm Electrophysiol 2015 Aug 28;8(4):933-41. Epub 2015 May 28.

From the Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL (F.P., A.L.G.); and Department of Medicine (F.P., J.D.K., A.L.G.) and Department of Pharmacology (T.M.B., A.L.G.), Vanderbilt University, Nashville, TN.

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http://dx.doi.org/10.1161/CIRCEP.115.002760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545406PMC
August 2015

New approaches to establish genetic causality.

Trends Cardiovasc Med 2015 Oct 4;25(7):646-52. Epub 2015 Mar 4.

Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL; Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address:

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http://dx.doi.org/10.1016/j.tcm.2015.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560679PMC
October 2015

Personalized biochemistry and biophysics.

Biochemistry 2015 Apr 15;54(16):2551-9. Epub 2015 Apr 15.

†Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, United States.

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http://dx.doi.org/10.1021/acs.biochem.5b00189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415889PMC
April 2015

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.

J Am Coll Cardiol 2015 Feb;65(4):367-374

Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1016/j.jacc.2014.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312415PMC
February 2015

Calmodulinopathy: a genetic trilogy.

Authors:
Alfred L George

Heart Rhythm 2015 Feb 18;12(2):423-4. Epub 2014 Nov 18.

Department of Pharmacology and Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2014.11.017DOI Listing
February 2015

Use of contemporary genetics in cardiovascular diagnosis.

Authors:
Alfred L George

Circulation 2014 Nov;130(22):1971-80

From the Department of Pharmacology and Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.006511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491434PMC
November 2014

Lessons learned from genetic testing for channelopathies.

Authors:
Alfred L George

Lancet Neurol 2014 Nov;13(11):1068-1070

Department of Pharmacology and Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70123-1DOI Listing
November 2014

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.

Circ Cardiovasc Genet 2014 Oct 2;7(5):599-606. Epub 2014 Aug 2.

From the Division of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Medical Research Council (MRC) Centre for Molecular and Cellular Biology, (C.P.d.V., L.v.d.M., J.C.M.-S., V.A.C.), and Department of Internal Medicine (A.G., P.A.B.), Stellenbosch University, Stellenbosch, South Africa; Department of Statistics, University of Western Cape, Bellville, South Africa (L.v.d.M.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., P.J.S.); Department of Molecular Medicine, University of Pavia, Pavia, Italy (L.C.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (L.C.); and Departments of Medicine and Pharmacology, and Institute for Integrative Genomics, Vanderbilt University, Nashville, TN (A.L.G.).

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270884PMC
October 2014

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.

Cardiovasc Res 2014 Nov 22;104(2):355-63. Epub 2014 Jul 22.

Division of Cardiovascular Medicine, Vanderbilt University School of Medicine, 2215B Garland Avenue, Room 1285A MRB IV, Nashville, TN 37323-6602, USA Division of Clinical Pharmacology, Vanderbilt University School of Medicine, 2215B Garland Avenue, Room 1285A MRB IV, Nashville, TN 37323-6602, USA

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http://dx.doi.org/10.1093/cvr/cvu170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271018PMC
November 2014

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

J Am Heart Assoc 2014 Jun 23;3(3):e000996. Epub 2014 Jun 23.

Department of Physiology, University of Kentucky College of Medicine, Lexington, KY (G.Y., F.H., A.R.H., J.S.).

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https://www.ahajournals.org/doi/10.1161/JAHA.114.000996
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http://dx.doi.org/10.1161/JAHA.114.000996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4309107PMC
June 2014

Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

J Mol Cell Cardiol 2014 Sep 8;74:115-24. Epub 2014 May 8.

Calcium Signals Laboratory, Department of Biomedical Engineering, The Johns Hopkins University School of Medicine, Baltimore, MD 21205; Department of Neuroscience, The Johns Hopkins University School of Medicine, Baltimore, MD 21205. Electronic address:

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http://dx.doi.org/10.1016/j.yjmcc.2014.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262253PMC
September 2014

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

Heart Rhythm 2014 Aug 9;11(8):1446-53. Epub 2014 May 9.

Department of Pharmacology, Vanderbilt University, Nashville, Tennessee; Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, Tennessee. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2014.04.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108519PMC
August 2014

Recent genetic discoveries implicating ion channels in human cardiovascular diseases.

Authors:
Alfred L George

Curr Opin Pharmacol 2014 Apr 11;15:47-52. Epub 2013 Dec 11.

Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA. Electronic address:

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http://dx.doi.org/10.1016/j.coph.2013.11.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984451PMC
April 2014

Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.

Circ Res 2014 Mar 21;114(7):1114-24. Epub 2014 Feb 21.

From the Departments of Medicine (H.S.H., M.F., A.L.G., B.C.K.), Biochemistry (C.N.J., W.J.C.), Chemistry (W.J.C.), and Pharmacology (A.L.G., B.C.K.), Vanderbilt University, Nashville, TN; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis (F.R.N., R.L.C.); Department of Pharmacology, University of California, Davis (Y.Y., L.P., D.M.B.); and Department of School of Biomedical Sciences and Pharmacy, University of Newcastle, New South Wales, Australia (K.W., D.L.).

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http://dx.doi.org/10.1161/CIRCRESAHA.114.303391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990285PMC
March 2014

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.

Neurobiol Dis 2014 May 14;65:1-11. Epub 2014 Jan 14.

Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232-0275, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968814PMC
May 2014

Ranolazine reduces neuronal excitability by interacting with inactivated states of brain sodium channels.

Mol Pharmacol 2014 Jan 7;85(1):162-74. Epub 2013 Nov 7.

Department of Biology (Cardiovascular Therapeutic Area), Gilead Sciences, Inc., Foster City and Fremont, California (K.M.K., R.H., L.L., L.B., S.R.); Departments of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee (A.L.G.).

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http://dx.doi.org/10.1124/mol.113.088492DOI Listing
January 2014

Novel SCN3A variants associated with focal epilepsy in children.

Neurobiol Dis 2014 Feb 21;62:313-22. Epub 2013 Oct 21.

Department of Medicine, Vanderbilt University, Nashville, TN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2013.10.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877720PMC
February 2014

Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation.

Circ Arrhythm Electrophysiol 2013 Oct 4;6(5):960-6. Epub 2013 Sep 4.

Department of Pharmacology and Department of Medicine, Vanderbilt University, Nashville, TN; and Department of Engineering Management, Information, and Systems, Southern Methodist University, Dallas, TX.

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http://dx.doi.org/10.1161/CIRCEP.113.000439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892565PMC
October 2013

SPARCL1 suppresses metastasis in prostate cancer.

Mol Oncol 2013 Dec 20;7(6):1019-30. Epub 2013 Jul 20.

Department of Medicine, Vanderbilt University, Nashville, TN 37232-0275, USA; Minimally Invasive Urology Center, Provincial Hospital Affiliated to Shandong University, Jinan 250021, China. Electronic address:

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http://dx.doi.org/10.1016/j.molonc.2013.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3838491PMC
December 2013

Impact of genetics on the clinical management of channelopathies.

J Am Coll Cardiol 2013 Jul 15;62(3):169-180. Epub 2013 May 15.

Department of Cardiology, Heart Failure Research Centre, Academic Medical Centre, Amsterdam, the Netherlands; Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jacc.2013.04.044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710520PMC
July 2013

Lipid kinase mutations in heritable glomerular microangiopathy.

Authors:
Alfred L George

J Am Soc Nephrol 2013 Feb 14;24(3):329-30. Epub 2013 Feb 14.

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http://dx.doi.org/10.1681/ASN.2013010078DOI Listing
February 2013

Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling.

J Gen Physiol 2013 Feb;141(2):193-202

Department of Medicine, Vanderbilt University, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1085/jgp.201210919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3557314PMC
February 2013

Molecular and genetic basis of sudden cardiac death.

Authors:
Alfred L George

J Clin Invest 2013 Jan 2;123(1):75-83. Epub 2013 Jan 2.

Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1172/JCI62928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533278PMC
January 2013

Leaky channels make weak muscles.

Authors:
Alfred L George

J Clin Invest 2012 Dec 26;122(12):4333-6. Epub 2012 Nov 26.

Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1172/JCI66535DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512169PMC
December 2012

Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

J Biol Chem 2012 Dec 19;287(50):42001-8. Epub 2012 Oct 19.

Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1074/jbc.M112.421883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516746PMC
December 2012