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Citations to this article

Inherited disorders of voltage-gated sodium channels
Alfred L. George Jr.
Alfred L. George Jr.
Published August 1, 2005
Citation Information: J Clin Invest. 2005;115(8):1990-1999. https://doi.org/10.1172/JCI25505.
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Inherited disorders of voltage-gated sodium channels

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Abstract

A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm, and nervous system function have been traced to mutations in genes encoding voltage-gated sodium channels. Clinical severity among these conditions ranges from mild or even latent disease to life-threatening or incapacitating conditions. The sodium channelopathies were among the first recognized ion channel diseases and continue to attract widespread clinical and scientific interest. An expanding knowledge base has substantially advanced our understanding of structure-function and genotype-phenotype relationships for voltage-gated sodium channels and provided new insights into the pathophysiological basis for common diseases such as cardiac arrhythmias and epilepsy.

Authors

Alfred L. George Jr.

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Total citations by year

Year: 2025 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 Total
Citations: 4 4 4 4 7 6 2 10 10 9 15 9 14 14 8 7 14 9 15 4 1 170
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Barber AF, Carnevale V, Raju SG, Amaral C, Treptow W, Klein ML
Biochimica et Biophysica Acta 2012
Mechanism and molecular basis for the sodium channel subtype specificity of µ-conopeptide CnIIIC.
Markgraf R, Leipold E, Schirmeyer J, Paolini-Bertrand M, Hartley O, Heinemann SH
British Journal of Pharmacology 2012
Perturbation of sodium channel structure by an inherited Long QT Syndrome mutation.
Glaaser IW, Osteen JD, Puckerin A, Sampson KJ, Jin X, Kass RS
Nature Communications 2012
A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia
T Kubota, X Roca, T Kimura, Y Kokunai, I Nishino, S Sakoda, AR Krainer, MP Takahashi
Human Mutation 2011
Informatic and functional approaches to identifying a regulatory region for the cardiac sodium channel
TC Atack, DM Stroud, H Watanabe, T Yang, L Hall, SB Hipkens, JS Lowe, B Leake, MA Magnuson, P Yang, DM Roden
Circulation research 2011
SCN5A Variation Is Associated With Electrocardiographic Traits in the Jackson Heart Study
JM Jeff, K Brown-Gentry, SG Buxbaum, DF Sarpong, HA Taylor, AL George, DM Roden, DC Crawford
Circulation. Cardiovascular genetics 2011
Skeletal Muscle Na+ Channel Disorders
D Simkin, S Bendahhou
Frontiers in pharmacology 2011
Open- and closed-state fast inactivation in sodium channels: Differential effects of a site-3 anemone toxin
J Groome, F Lehmann-Horn, B Holzherr
Channels (Austin, Tex.) 2011
Asymmetric synthesis and evaluation of a hydroxyphenylamide voltage-gated sodium channel blocker in human prostate cancer xenografts.
Davis GC, Kong Y, Paige M, Li Z, Merrick EC, Hansen T, Suy S, Wang K, Dakshanamurthy S, Cordova A, McManus OB, Williams BS, Chruszcz M, Minor W, Patel MK, Brown ML
Bioorganic & Medicinal Chemistry 2011
SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs.
Thompson CH, Kahlig KM, George AL Jr
Epilepsia 2011
Increased persistent Na+ current contributes to seizure in the slamdance bang-sensitive Drosophila mutant.
Marley R, Baines RA
Journal of neurophysiology 2011
Voltage-gated sodium channels are required for heart development in zebrafish
SS Chopra, DM Stroud, H Watanabe, JS Bennett, CG Burns, KS Wells, T Yang, TP Zhong, DM Roden
Circulation research 2010
Ranolazine selectively blocks persistent current evoked by epilepsy-associated NaV1.1 mutations
KM Kahlig, I Lepist, K Leung, S Rajamani, AL George
British Journal of Pharmacology 2010
Transmembrane Segments Prevent Surface Expression of Sodium Channel Nav1.8 and Promote Calnexin-dependent Channel Degradation*
Q Li, YY Su, H Wang, L Li, Q Wang, L Bao
The Journal of biological chemistry 2010
Molecular determinants of state-dependent block of voltage-gated sodium channels by pilsicainide.
Desaphy JF, Dipalma A, Costanza T, Bruno C, Lentini G, Franchini C, George A, Conte Camerino D
British Journal of Pharmacology 2010
The outer vestibule of the Na+ channel-toxin receptor and modulator of permeation as well as gating.
Cervenka R, Zarrabi T, Lukacs P, Todt H
Marine drugs 2010
Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation.
Estacion M, Choi JS, Eastman EM, Lin Z, Li Y, Tyrrell L, Yang Y, Dib-Hajj SD, Waxman SG
The Journal of Physiology 2010
Targeting voltage sensors in sodium channels with spider toxins.
Bosmans F, Swartz KJ
Trends in Pharmacological Sciences 2010
Resurgent Sodium Currents are Increased in Inherited Neuronal and Muscle Channelopathies
Brian Jarecki, Andrew Piekarz, James Jackson, II, Theodore Cummins
Journal of Clinical Investigation 2009
Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies
Stephen C. Cannon, Bruce Bean
Journal of Clinical Investigation 2009
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009
Sodium channel mutations and arrhythmias
Y Ruan, N Liu, SG Priori
Nature Reviews Cardiology 2009
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels
S Teng, L Gao, V Paajanen, J Pu, Z Fan
Cardiovascular Research 2009
S-Nitrosylation of Cardiac Ion Channels
DR Gonzalez, A Treuer, QA Sun, JS Stamler, JM Hare
Journal of Cardiovascular Pharmacology 2009
A double tyrosine motif in the cardiac sodium channel domain III-IV linker couples calcium-dependent calmodulin binding to inactivation gating
MF Sarhan, FV Petegem, CA Ahern
The Journal of biological chemistry 2009
Cell Membrane Expression of Cardiac Sodium Channel Na v 1.5 Is Modulated by α-Actinin-2 Interaction
R Ziane, H Huang, B Moghadaszadeh, AH Beggs, G Levesque, M Chahine
Biochemistry 2009
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations
CH Hsueh, WP Chen, JL Lin, CT Tsai, YB Liu, JM Juang, HM Tsao, MJ Su, LP Lai
Journal of Biomedical Science 2009
The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular trafficking
LM Sharkey, X Cheng, V Drews, DA Buchner, JM Jones, MJ Justice, SG Waxman, SD Dib-Hajj, MH Meisler
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009
Transfection of rat or mouse neurons by biolistics or electroporation
SD Dib-Hajj, JS Choi, LJ Macala, L Tyrrell, JA Black, TR Cummins, SG Waxman
Nature Protocols 2009
Manipulating neuronal circuits with endogenous and recombinant cell-surface tethered modulators.
Holford M, Auer S, Laqua M, Ibañez-Tallon I
Frontiers in molecular neuroscience 2009
Structural and regulatory evolution of cellular electrophysiological systems.
Rosati B, McKinnon D
Evolution & Development 2009
Crystal structure of a fibroblast growth factor homologous factor (FHF) defines a conserved surface on FHFs for binding and modulation of voltage-gated sodium channels.
Goetz R, Dover K, Laezza F, Shtraizent N, Huang X, Tchetchik D, Eliseenkova AV, Xu CF, Neubert TA, Ornitz DM, Goldfarb M, Mohammadi M
The Journal of biological chemistry 2009
Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases
WA Catterall, S Dib-Hajj, MH Meisler, D Pietrobon
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008
Voltage-gated Na+ channels: Potential for β subunits as therapeutic targets
WJ Brackenbury, LL Isom
Expert Opinion on Therapeutic Targets 2008
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
KD Holland, JA Kearney, TA Glauser, G Buck, M Keddache, JR Blankston, IW Glaaser, RS Kass, MH Meisler
Neuroscience Letters 2008
Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade
X Cheng, SD Dib-Hajj, L Tyrrell, SG Waxman
Molecular Pain 2008
Ion channel clustering at the axon initial segment and node of Ranvier evolved sequentially in early chordates.
Hill AS, Nishino A, Nakajo K, Zhang G, Fineman JR, Selzer ME, Okamura Y, Cooper EC
PLoS genetics 2008
DDESC: Dragon database for exploration of sodium channels in human.
Sagar S, Kaur M, Dawe A, Seshadri SV, Christoffels A, Schaefer U, Radovanovic A, Bajic VB
BMC Genomics 2008
Deconstructing voltage sensor function and pharmacology in sodium channels.
Bosmans F, Martin-Eauclaire MF, Swartz KJ
Nature 2008
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Lindsay HA, Baines R, ffrench-Constant R, Lilley K, Jacobs HT, O'Dell KM
Genetics 2008
A case of appropriate inappropriate device therapy: hyperkalemia-induced ventricular oversensing.
Oudit GY, Cameron D, Harris L
The Canadian journal of cardiology 2008
Mutations in sodium channel gene SCN9A cause a spectrum of human genetic pain disorders
Joost P.H. Drenth1 and Stephen G. Waxman2
Journal of Clinical Investigation 2007
Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel
LL Shang, AE Pfahnl, S Sanyal, Z Jiao, J Allen, K Banach, J Fahrenbach, D Weiss, WR Taylor, AM Zafari, SC Dudley
Circulation research 2007
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs
F Gabanella, ME Butchbach, L Saieva, C Carissimi, AH Burghes, L Pellizzoni
PloS one 2007
Lithium-induced sinus node disease at therapeutic concentrations: linking lithium-induced blockade of sodium channels to impaired pacemaker activity.
Oudit GY, Korley V, Backx PH, Dorian P
The Canadian journal of cardiology 2007
Persistent sodium current and its role in epilepsy
CE Stafstrom
Epilepsy currents / American Epilepsy Society 2007
Reduced Sodium Current in Purkinje Neurons from NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy
F Kalume, FH Yu, RE Westenbroek, T Scheuer, WA Catterall
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007
Modulatory Proteins Can Rescue a Trafficking Defective Epileptogenic Nav1.1 Na+ Channel Mutant
R Rusconi, P Scalmani, RR Cassulini, G Giunti, A Gambardella, S Franceschetti, G Annesi, E Wanke, M Mantegazza
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007
Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation
I Ogiwara, H Miyamoto, N Morita, N Atapour, E Mazaki, I Inoue, T Takeuchi, S Itohara, Y Yanagawa, K Obata, T Furuichi, TK Hensch, K Yamakawa
The Journal of neuroscience : the official journal of the Society for Neuroscience 2007
State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine.
Wang GK, Calderon J, Wang SY
Molecular pharmacology 2007
The roles of sodium channels in nociception: Implications for mechanisms of pain.
Cummins TR, Sheets PL, Waxman SG
PAIN 2007
Molecular cloning and analysis of zebrafish voltage-gated sodium channel beta subunit genes: implications for the evolution of electrical signaling in vertebrates.
Chopra SS, Watanabe H, Zhong TP, Roden DM
BMC Evolutionary Biology 2007
A possible explanation for the paradox of hyperexcitability and epilepsy in "loss of function" voltage-gated sodium channel mutations.
Mathews GC
Epilepsy Currents 2007
Functional anthology of intrinsic disorder. 3. Ligands, post-translational modifications, and diseases associated with intrinsically disordered proteins.
Xie H, Vucetic S, Iakoucheva LM, Oldfield CJ, Dunker AK, Obradovic Z, Uversky VN
Journal of Proteome Research 2007
(What to do) when epilepsy gene mutations stop making sense.
Cooper EC
Epilepsy Currents 2007
Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.
Han C, Lampert A, Rush AM, Dib-Hajj SD, Wang X, Yang Y, Waxman SG
Molecular Pain 2007
Effects in Neocortical Neurons of Mutations of the Nav1.2 Na+ Channel causing Benign Familial Neonatal-Infantile Seizures
P Scalmani, R Rusconi, E Armatura, F Zara, G Avanzini, S Franceschetti, M Mantegazza
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation.
Kahlig KM, Misra SN, George AL Jr
The Journal of neuroscience : the official journal of the Society for Neuroscience 2006
Topochemical models for the prediction of voltage-gated sodium channel binding activity of hydantoins and related non-hydantoins.
Gupta M, Madan AK
Journal of Molecular Modeling 2006
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.
Vanoye CG, Lossin C, Rhodes TH, George AL Jr
The Journal of General Physiology 2006
The channelopathies: novel insights into molecular and genetic mechanisms of human disease
RS Kass
Journal of Clinical Investigation 2005

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