Biomedical Research Education & Training
Faculty Member

George, Alfred L., M.D.
Director, Division of Genetic Medicine
Professor of Medicine
Grant W. Liddle Chair
Professor of Pharmacology

Lab Url:

Phone Number: (615) 936-2660

Email Address:

George, Alfred's picture
Academic history
B.A., The College of Wooster, Wooster OH
M.D., University of Rochester, Rochester, NY

Office Address   Mailing Address

529 Light Hall

529 Light Hall 0275

Research Keywords
ion channels, genetics

Research Specialty
Identification and characterization of human ion channel mutations

Research Description
Ion channels have an essential role in many diverse physiological processes. In muscle and heart, the generation and propagation of action potentials and ultimately the development of contraction are dependent upon a coordinated series of ion channel events. We are currently investigating the role of genetic mutations in specific ion channel genes in the molecular pathogenesis of certain hereditary disorders of striated muscle and neuronal excitability. Included in this research program is work aimed at identifying and functionally characterizing disease-producing point mutations in human voltage-dependent sodium channels, and human chloride channels. These investigations have yielded considerable new knowledge regarding the structure and function of ion channels as well as providing molecular and biophysical explanations for several interesting phenotypes including periodic paralysis, various forms of inherited myotonia, congenital long QT syndrome, and certain types of familial epilepsy. This work requires the use of molecular biological and molecular genetic techniques as well as in vitro expression studies and electrophysiology.

Campbell, CM, Campbell, JD, Thompson, CH, Vanoye, CG, George, AL. Selective Targeting of Gain-of-function KCNQ1 Mutations Predisposing to Atrial Fibrillation. Circ Arrhythm Electrophysiol, 2013

George, AL. Molecular and genetic basis of sudden cardiac death. J Clin Invest, 123(1), 75-83, 2013

Qiu, Q, Lu, P, Xiang, Y, Shyr, Y, Chen, X, Lehmann, BD, Viox, DJ, George, AL, Yi, Y. A data similarity-based strategy for meta-analysis of transcriptional profiles in cancer. PLoS One, 8(1), e54979, 2013

Ramirez, AH, Shaffer, CM, Delaney, JT, Sexton, DP, Levy, SE, Rieder, MJ, Nickerson, DA, George, AL, Roden, DM. Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. Pharmacogenomics J, 13(4), 325-9, 2013

Vanoye, CG, Kunic, JD, Ehring, GR, George, AL. Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling. J Gen Physiol, 141(2), 193-202, 2013

Xiang, Y, Qiu, Q, Jiang, M, Jin, R, Lehmann, BD, Strand, DW, Jovanovic, B, Degraff, DJ, Zheng, Y, Yousif, DA, Simmons, CQ, Case, TC, Yi, J, Cates, JM, Virostko, J, He, X, Jin, X, Hayward, SW, Matusik, RJ, George, AL, Yi, Y. SPARCL1 suppresses metastasis in prostate cancer. Mol Oncol, 2013

George, AL. Leaky channels make weak muscles. J Clin Invest, 122(12), 4333-6, 2012

Hallaq, H, Wang, DW, Kunic, JD, George, AL, Wells, KS, Murray, KT. Activation of protein kinase C alters the intracellular distribution and mobility of cardiac Na+ channels. Am J Physiol Heart Circ Physiol, 302(3), H782-9, 2012

Murphy, LL, Moon-Grady, AJ, Cuneo, BF, Wakai, RT, Yu, S, Kunic, JD, Benson, DW, George, AL. Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm, 9(4), 590-7, 2012

Potet, F, Lorinc, AN, Chaigne, S, Hopkins, CR, Venkataraman, R, Stepanovic, SZ, Lewis, LM, Days, E, Sidorov, VY, Engers, DW, Zou, B, Afshartous, D, George, AL, Campbell, CM, Balser, JR, Li, M, Baudenbacher, FJ, Lindsley, CW, Weaver, CD, Kupershmidt, S. Identification and characterization of a compound that protects cardiac tissue from human Ether-??-go-go-related gene (hERG)-related drug-induced arrhythmias. J Biol Chem, 287(47), 39613-25, 2012

Thompson, CH, Porter, JC, Kahlig, KM, Daniels, MA, George, AL. Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression. J Biol Chem, 287(50), 42001-8, 2012

Ciampa, EJ, Welch, RC, Vanoye, CG, George, AL. KCNE4 juxtamembrane region is required for interaction with calmodulin and for functional suppression of KCNQ1. J Biol Chem, 286(6), 4141-9, 2011

Jeff, JM, Brown-Gentry, K, Buxbaum, SG, Sarpong, DF, Taylor, HA, George, AL, Roden, DM, Crawford, DC. SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study. Circ Cardiovasc Genet, 4(2), 139-44, 2011

Jorge, BS, Campbell, CM, Miller, AR, Rutter, ED, Gurnett, CA, Vanoye, CG, George, AL, Kearney, JA. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc Natl Acad Sci U S A, 108(13), 5443-8, 2011

Thompson, CH, Kahlig, KM, George, AL. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia, 52(5), 1000-9, 2011

Venkov, C, Plieth, D, Ni, T, Karmaker, A, Bian, A, George, AL, Neilson, EG. Transcriptional networks in epithelial-mesenchymal transition. PLoS One, 6(9), e25354, 2011

Watanabe, H, Yang, T, Stroud, DM, Lowe, JS, Harris, L, Atack, TC, Wang, DW, Hipkens, SB, Leake, B, Hall, L, Kupershmidt, S, Chopra, N, Magnuson, MA, Tanabe, N, Knollmann, BC, George, AL, Roden, DM. Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation, 124(9), 1001-11, 2011

Kahlig, KM, Lepist, I, Leung, K, Rajamani, S, George, AL. Ranolazine selectively blocks persistent current evoked by epilepsy-associated Na??1.1 mutations. Br J Pharmacol, 161(6), 1414-26, 2010

Killen, SA, Kunic, J, Wang, L, Lewis, A, Levy, BP, Ackerman, MJ, George, AL. SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr. BMC Med Genet, 11, 74, 2010

Vanoye, CG, Welch, RC, Tian, C, Sanders, CR, George, AL. KCNQ1/KCNE1 assembly, co-translation not required. Channels (Austin), 4(2), 108-14, 2010

Darbar, D, Kannankeril, PJ, Donahue, BS, Kucera, G, Stubblefield, T, Haines, JL, George, AL, Roden, DM. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation, 117(15), 1927-35, 2008 PMCID:2365761

George, AL. Appraising the Value of Genomic Association Studies. J Am Soc Nephrol, 2008

Kahlig, KM, Rhodes, TH, Pusch, M, Freilinger, T, Pereira-Monteiro, JM, Ferrari, MD, van den Maagdenberg, AM, Dichgans, M, George, AL. Divergent sodium channel defects in familial hemiplegic migraine. Proc Natl Acad Sci U S A, 105(28), 9799-804, 2008 PMCID:2474506

Kang, C, Tian, C, S??nnichsen, FD, Smith, JA, Meiler, J, George, AL, Vanoye, CG, Kim, HJ, Sanders, CR. Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry, 47(31), 7999-8006, 2008 PMCID:2580054

Kim, I, Fu, Y, Hui, K, Moeckel, G, Mai, W, Li, C, Liang, D, Zhao, P, Ma, J, Chen, XZ, George, AL, Coffey, RJ, Feng, ZP, Wu, G. Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol, 19(3), 455-68, 2008 PMCID:2391052

Manderfield, LJ, George, AL. KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex. FEBS J, 275(6), 1336-49, 2008

McArdle, EJ, Kunic, JD, George, AL. Novel SCN1A frameshift mutation with absence of truncated Na(V)1.1 protein in severe myoclonic epilepsy of infancy. Am J Med Genet A, 2008

Misra, SN, Kahlig, KM, George, AL. Impaired Na[inf]v[/inf]1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia, 2008

Rhodes, TE, Abraham, RL, Welch, RC, Vanoye, CG, Crotti, L, Arnestad, M, Insolia, R, Pedrazzini, M, Ferrandi, C, Vege, A, Rognum, T, Roden, DM, Schwartz, PJ, George, AL. Cardiac potassium channel dysfunction in sudden infant death syndrome. J Mol Cell Cardiol, 44(3), 571-81, 2008 PMCID:2386856

Sile, S, Velez, DR, Gillani, NB, Alexander, CA, Alexander, CR, George, AL, Williams, SM. Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered, 65(1), 33-46, 2008

Ballester, LY, Vanoye, CG, George, AL. Exaggerated Mg(2+) Inhibition of Kir2.1 as a Consequence of Reduced PIP(2) Sensitivity in Andersen Syndrome. Channels (Austin), 1(3), 209-17, 2007

Platt, AR, Woodhall, RW, George, AL. Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol. Biotechniques, 43(1), 58, 60, 62, 2007

Sile, S, Gillani, NB, Velez, DR, Vanoye, CG, Yu, C, Byrne, LM, Gainer, JV, Brown, NJ, Williams, SM, George, AL. Functional BSND variants in essential hypertension. Am J Hypertens, 20(11), 1176-1182, 2007

Smith, JA, Vanoye, CG, George, AL, Meiler, J, Sanders, CR. Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry, 46(49), 14141-52, 2007 PMCID:2565492

Tian, C, Vanoye, CG, Kang, C, Welch, RC, Kim, HJ, George, AL, Sanders, CR. Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome. Biochemistry, 46(41), 11459-72, 2007 PMCID:2565491

Wang, DW, Desai, RR, Crotti, L, Arnestad, M, Insolia, R, Pedrazzini, M, Ferrandi, C, Vege, A, Rognum, T, Schwartz, PJ, George, AL. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation, 115(3), 368-76, 2007

Wilson, MH, Coates, CJ, George, AL. PiggyBac Transposon-mediated Gene Transfer in Human Cells. Mol Ther, 15(1), 139-45, 2007

Yi, Y, Li, C, Miller, C, George, AL. Strategy for encoding and comparison of gene expression signatures. Genome Biol, 8(7), R133, 2007 PMCID:2323223

Yi, Y., Li, C., Miller, C., and George, A.L., Jr.. Strategy for encoding and comparison of gene expression signatures.. Genome Biology, 8, R133, 2007

Ballester, LY, Benson, DW, Wong, B, Law, IH, Mathews, KD, Vanoye, CG, George, AL. Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat, 27(4), 388, 2006

Kahlig, KM, Misra, SN, George, AL. Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J Neurosci, 26(43), 10958-66, 2006

Lundquist, AL, Turner, CL, Ballester, LY, George, AL. Expression and transcriptional control of human KCNE genes. Genomics, 87(1), 119-28, 2006

Ohmori, I, Kahlig, KM, Rhodes, TH, Wang, DW, George, AL. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia, 47(10), 1636-42, 2006

Ritchie, MD, Haas, DW, Motsinger, AA, Donahue, JP, Erdem, H, Raffanti, S, Rebeiro, P, George, AL, Kim, RB, Haines, JL, Sterling, TR. Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis, 43(6), 779-82, 2006

Sile, S, Vanoye, CG, George, AL. Molecular physiology of renal ClC chloride channels/transporters. Curr Opin Nephrol Hypertens, 15(5), 511-6, 2006

Vanoye, CG, Lossin, C, Rhodes, TH, George, AL. Single-channel Properties of Human NaV1.1 and Mechanism of Channel Dysfunction in SCN1A-associated Epilepsy. J Gen Physiol, 127(1), 1-14, 2006 PMCID:2151481

Darbar, D, Sile, S, Fish, FA, George, AL. Congenital long QT syndrome aggravated by salt-wasting nephropathy. Heart Rhythm, 2(3), 304-6, 2005 PMCID:1350445

George, AL. Inherited disorders of voltage-gated sodium channels. J Clin Invest, 115(8), 1990-9, 2005 PMCID:1180550

Haas, DW, Smeaton, LM, Shafer, RW, Robbins, GK, Morse, GD, Labbe, L, Wilkinson, GR, Clifford, DB, D''Aquila, RT, De Gruttola, V, Pollard, RB, Merigan, TC, Hirsch, MS, George, AL, Donahue, JP, Kim, RB. Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis, 192(11), 1931-42, 2005

Kannankeril, PJ, Roden, DM, Norris, KJ, Whalen, SP, George, AL, Murray, KT. Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives. Heart Rhythm, 2(2), 134-40, 2005

Lundquist, Andrew L, Manderfield, Lauren J, Vanoye, Carlos G, Rogers, Christopher S, Donahue, Brian S, Chang, Paul A, Drinkwater, Davis C, Murray, Katherine T, George, Alfred L. Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol, 38(2), 277-87, 2005

Rhodes, TH, Vanoye, CG, Ohmori, I, Ogiwara, I, Yamakawa, K, George, AL. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol, 569(Pt 2), 433-45, 2005 PMCID:1464244

Wilson, MH, Kaminski, JM, George, AL. Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition. FEBS Lett, 579(27), 6205-9, 2005

Yi, Y, Mirosevich, J, Shyr, Y, Matusik, R, George, AL. Coupled analysis of gene expression and chromosomal location. Genomics, 85(3), 401-12, 2005

George, AL. Inherited Channelopathies Associated with Epilepsy. Epilepsy Curr, 4(2), 65-70, 2004 PMCID:531663

George, AL. Molecular basis of inherited epilepsy. Arch Neurol, 61(4), 473-8, 2004

Mullins, FM, Stepanovic, SZ, Gillani, NB, George, AL, Balser, JR. Functional interaction between extracellular sodium, potassium and inactivation gating in HERG channels. J Physiol, 558(Pt 3), 729-44, 2004 PMCID:1665011

Petersen, CI, McFarland, TR, Stepanovic, SZ, Yang, P, Reiner, DJ, Hayashi, K, George, AL, Roden, DM, Thomas, JH, Balser, JR. In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. Proc Natl Acad Sci U S A, 101(32), 11773-8, 2004 PMCID:511051

Rhodes, Thomas H, Lossin, Christoph, Vanoye, Carlos G, Wang, Dao W, George, Alfred L. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A, 101(30), 11147-52, 2004 PMCID:503754

Donahue, BS, Byrne, DW, Gailani, D, George, AL. Tissue factor and platelet glycoprotein Ib-alpha alleles are associated with age at first coronary bypass operation. Anesthesiology, 99(6), 1287-94, 2003

Donahue, BS, Gailani, D, Higgins, MS, Drinkwater, DC, George, AL. Factor V Leiden protects against blood loss and transfusion after cardiac surgery. Circulation, 107(7), 1003-8, 2003

Floyd, MD, Gervasini, G, Masica, AL, Mayo, G, George, AL, Bhat, K, Kim, RB, Wilkinson, GR. Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics, 13(10), 595-606, 2003

Kupershmidt, S, Yang, IC, Hayashi, K, Wei, J, Chanthaphaychith, S, Petersen, CI, Johns, DC, George, AL, Roden, DM, Balser, JR. The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines. FASEB J, 17(15), 2263-5, 2003

Lossin, Christoph, Rhodes, Thomas H, Desai, Reshma R, Vanoye, Carlos G, Wang, Dao, Carniciu, Sanda, Devinsky, Orrin, George, Alfred L. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci, 23(36), 11289-95, 2003

Tapper, AR, George, AL. Heterologous expression of ion channels. Methods Mol Biol, 217, 285-94, 2003

Kanki, H, Yang, P, Xie, HG, Kim, RB, George, AL, Roden, DM. Polymorphisms in beta-adrenergic receptor genes in the acquired long QT syndrome. J Cardiovasc Electrophysiol, 13(3), 252-6, 2002

Lossin, Christoph, Wang, Dao W, Rhodes, Thomas H, Vanoye, Carlos G, George, Alfred L. Molecular basis of an inherited epilepsy.. Neuron, 34(6), 877-84, 2002

Mullins, FM, Stepanovic, SZ, Desai, RR, George, AL, Balser, JR. Extracellular sodium interacts with the HERG channel at an outer pore site. J Gen Physiol, 120(4), 517-37, 2002 PMCID:2229534

Roden, DM, Balser, JR, George, AL, Anderson, ME. Cardiac ion channels. Annu Rev Physiol, 64, 431-75, 2002

Roden, Dan M, George, Alfred L. The genetic basis of variability in drug responses.. Nat Rev Drug Discov, 1(1), 37-44, 2002

Rogers, Christopher S, Vanoye, Carlos G, Sullenger, Bruce A, George, Alfred L. Functional repair of a mutant chloride channel using a trans-splicing ribozyme.. J Clin Invest, 110(12), 1783-9, 2002 PMCID:151654

Song, Luyan, Mercado, Adriana, V?!zquez, Norma, Xie, Qizhi, Desai, Reshma, George, Alfred L, Gamba, Gerardo, Mount, David B. Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter.. Brain Res Mol Brain Res, 103(1-2), 91-105, 2002

Vanoye, Carlos G, George, Alfred L. Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells.. J Physiol, 539(Pt 2), 373-83, 2002 PMCID:2290165

Wang, Dao W, Viswanathan, Prakash C, Balser, Jeffrey R, George, Alfred L, Benson, D Woodrow. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.. Circulation, 105(3), 341-6, 2002

Yang, P, Kanki, H, Drolet, B, Yang, T, Wei, J, Viswanathan, PC, Hohnloser, SH, Shimizu, W, Schwartz, PJ, Stanton, M, Murray, KT, Norris, K, George, AL, Roden, DM. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation, 105(16), 1943-8, 2002

Abou-Khalil, B, Ge, Q, Desai, R, Ryther, R, Bazyk, A, Bailey, R, Haines, J L, Sutcliffe, J S, George, A L. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.. Neurology, 57(12), 2265-72, 2001

Bianchi, L, Miller, DM, George, AL. Expression of a CIC chloride channel in Caenorhabditis elegans gamma-aminobutyric acid-ergic neurons. Neurosci Lett, 299(3), 177-80, 2001

Fahlke, C, Desai, RR, Gillani, N, George, AL. Residues lining the inner pore vestibule of human muscle chloride channels. J Biol Chem, 276(3), 1759-65, 2001

George, AL, Bianchi, L, Link, EM, Vanoye, CG. From stones to bones: the biology of ClC chloride channels. Curr Biol, 11(15), R620-8, 2001

Rutledge, E, Bianchi, L, Christensen, M, Boehmer, C, Morrison, R, Broslat, A, Beld, AM, George, AL, Greenstein, D, Strange, K. CLH-3, a ClC-2 anion channel ortholog activated during meiotic maturation in C. elegans oocytes. Curr Biol, 11(3), 161-70, 2001

Tapper, A R, George, A L. Location and orientation of minK within the I(Ks) potassium channel complex.. J Biol Chem, 276(41), 38249-54, 2001

Viswanathan, PC, Bezzina, CR, George, AL, Roden, DM, Wilde, AA, Balser, JR. Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes. Circulation, 104(10), 1200-5, 2001

Apparsundaram, S, Ferguson, SM, George, AL, Blakely, RD. Molecular cloning of a human, hemicholinium-3-sensitive choline transporter. Biochem Biophys Res Commun, 276(3), 862-7, 2000

George, AL, Neilson, EG. Genetics of kidney disease. Am J Kidney Dis, 35(4 Suppl 1), S160-9, 2000

Tapper, A R, George, A L. MinK subdomains that mediate modulation of and association with KvLQT1.. J Gen Physiol, 116(3), 379-90, 2000 PMCID:2233688

Wang, D W, Makita, N, Kitabatake, A, Balser, J R, George, A L. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.. Circ Res, 87(8), E37-43, 2000

Wei, J, Fish, FA, Myerburg, RJ, Roden, DM, George, AL. Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X. Hum Mutat, 15(4), 387-8, 2000

Zhou, J, Yi, J, Hu, N, George, AL, Murray, KT. Activation of protein kinase A modulates trafficking of the human cardiac sodium channel in Xenopus oocytes. Circ Res, 87(1), 33-8, 2000

Mount, DB, Mercado, A, Song, L, Xu, J, George, AL, Delpire, E, Gamba, G. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. J Biol Chem, 274(23), 16355-62, 1999

Rhodes, TH, Vite, CH, Giger, U, Patterson, DF, Fahlke, C, George, AL. A missense mutation in canine C1C-1 causes recessive myotonia congenita in the dog. FEBS Lett, 456(1), 54-8, 1999

Wang, DW, VanDeCarr, D, Ruben, PC, George, AL, Bennett, PB. Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia. FEBS Lett, 448(2-3), 231-4, 1999

Wei, J, Wang, DW, Alings, M, Fish, F, Wathen, M, Roden, DM, George, AL. Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation, 99(24), 3165-71, 1999

Fahlke, C, Rhodes, TH, Desai, RR, George, AL. Pore stoichiometry of a voltage-gated chloride channel. Nature, 394(6694), 687-90, 1998

George, AL. Chloride channels and endocytosis: ClC-5 makes a dent. Proc Natl Acad Sci U S A, 95(14), 7843-5, 1998 PMCID:33866

Wallace RH, Wang DW, Singh R, Scheffer IE, Phillips HA, Saar K, Reis A, Sutherland GR, Berkovic SF, George AL, Jr. and Mulley JC. Febrile seizures and generalised epilepsy caused by a mutation in the sodium channel subunit SCN1B. Nature Genet, 19, 366-370, 1998

Wilson, MH, Puranam, RS, Ottman, R, Gilliam, C, Limbird, LE, George, AL, McNamara, JO. Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy. Neurology, 51(6), 1730-1, 1998

Endsley, JK, Phillips, JA, Hruska, KA, Denneberg, T, Carlson, J, George, AL. Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Kidney Int, 51(6), 1893-9, 1997

Fahlke, C, Beck, CL, George, AL. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. Proc Natl Acad Sci U S A, 94(6), 2729-34, 1997 PMCID:20158

Fahlke, C, D??rr, C, George, AL. Mechanism of ion permeation in skeletal muscle chloride channels. J Gen Physiol, 110(5), 551-64, 1997 PMCID:2229385

Fahlke, C, Knittle, T, Gurnett, CA, Campbell, KP, George, AL. Subunit stoichiometry of human muscle chloride channels. J Gen Physiol, 109(1), 93-104, 1997 PMCID:2217051

Fahlke, C, Yu, H T, Beck, C L, Rhodes, T H, George, A L. Pore-forming segments in voltage-gated chloride channels.. Nature, 390(6659), 529-32, 1997

Murray, KT, Hu, NN, Daw, JR, Shin, HG, Watson, MT, Mashburn, AB, George, AL. Functional effects of protein kinase C activation on the human cardiac Na+ channel. Circ Res, 80(3), 370-6, 1997

Roden, DM, George, AL. Structure and function of cardiac sodium and potassium channels. Am J Physiol, 273(2 Pt 2), H511-25, 1997

Sloan Brown, K, George, AL. Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. Neurology, 48(2), 542-3, 1997

Wang, DW, Yazawa, K, Makita, N, George, AL, Bennett, PB. Pharmacological targeting of long QT mutant sodium channels. J Clin Invest, 99(7), 1714-20, 1997 PMCID:507992

Beck, C L, Fahlke, C, George, A L. Molecular basis for decreased muscle chloride conductance in the myotonic goat.. Proc Natl Acad Sci U S A, 93(20), 11248-52, 1996 PMCID:38315

Beck, C.L., Fahlke, Ch., and George, A.L., Jr. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci USA , 93, 11248-11252, 1996

George, AL. Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms. Nephrol Dial Transplant, 11(9), 1730-7, 1996

Makita, N, Bennett, PB, George, AL. Multiple domains contribute to the distinct inactivation properties of human heart and skeletal muscle Na+ channels. Circ Res, 78(2), 244-52, 1996

Makita, N, Bennett, PB, George, AL. Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na+ channels. J Neurosci, 16(22), 7117-27, 1996

Roden, DM, George, AL. The cardiac ion channels: relevance to management of arrhythmias. Annu Rev Med, 47, 135-48, 1996

Wang, DW, George, AL, Bennett, PB. Comparison of heterologously expressed human cardiac and skeletal muscle sodium channels. Biophys J, 70(1), 238-45, 1996 PMCID:1224923

Wang, DW, Nie, L, George, AL, Bennett, PB. Distinct local anesthetic affinities in Na+ channel subtypes. Biophys J, 70(4), 1700-8, 1996 PMCID:1225138

Wang, DW, Yazawa, K, George, AL, Bennett, PB. Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome. Proc Natl Acad Sci U S A, 93(23), 13200-5, 1996 PMCID:24070

Yang, N., George, A.L., Jr., and Horn, R. Molecular basis of charge movement in voltage-gated sodium channels. Neuron , 16, 113-122, 1996

Bennett, P B, Yazawa, K, Makita, N, George, A L. Molecular mechanism for an inherited cardiac arrhythmia.. Nature, 376(6542), 683-5, 1995

George, AL. Molecular genetics of ion channel diseases. Kidney Int, 48(4), 1180-90, 1995

George, AL, Varkony, TA, Drabkin, HA, Han, J, Knops, JF, Finley, WH, Brown, GB, Ward, DC, Haas, M. Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. Cytogenet Cell Genet, 68(1-2), 67-70, 1995

Roden, DM, George, AL, Bennett, PB. Recent advances in understanding the molecular mechanisms of the long QT syndrome. J Cardiovasc Electrophysiol, 6(11), 1023-31, 1995

George, AL, Knops, JF, Han, J, Finley, WH, Knittle, TJ, Tamkun, MM, Brown, GB. Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23. Genomics, 19(2), 395-7, 1994

George, AL, Sloan-Brown, K, Fenichel, GM, Mitchell, GA, Spiegel, R, Pascuzzi, RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet, 3(11), 2071-2, 1994

Makita, N, Bennett, PB, George, AL. Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. J Biol Chem, 269(10), 7571-8, 1994

Makita, N, Sloan-Brown, K, Weghuis, DO, Ropers, HH, George, AL. Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Genomics, 23(3), 628-34, 1994

Bennett, PB, Makita, N, George, AL. A molecular basis for gating mode transitions in human skeletal muscle Na+ channels. FEBS Lett, 326(1-3), 21-4, 1993

George, A L, Crackower, M A, Abdalla, J A, Hudson, A J, Ebers, G C. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).. Nat Genet, 3(4), 305-10, 1993

George, AL, Hays, JT, Graham, BS. Blastomycosis presenting as monoarticular arthritis. The role of synovial fluid cytology. Arthritis Rheum, 28(5), 516-21, 1985

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