Vanderbilt University School of Medicine

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

Lab Url:

Phone Number: (615) 936-2660


George, Alfred's picture

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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