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Select item 67730931.

The Human Skeletal Muscle Na Channel Mutation R669H Associated with Hypokalemic Periodic Paralysis Enhances Slow Inactivation

Arie F. Struyk, Kylie A. Scoggan, Dennis E. Bulman, Stephen C. Cannon

J Neurosci. 2000 Dec 1; 20(23): 8610–8617. doi: 10.1523/JNEUROSCI.20-23-08610.2000

PMCID:: PMC6773093

Abstract Article PDF–157K

Select item 67086122.

Structural Basis for Gating Pore Current in Periodic Paralysis

Daohua Jiang, Tamer M. Gamal El-Din, Christopher Ing, Peilong Lu, Régis Pomès, Ning Zheng, William A. Catterall

Nature. Author manuscript; available in PMC 2019 Aug 25.

Published in final edited form as: Nature. 2018 May; 557(7706): 590–594. Published online 2018 May 16. doi: 10.1038/s41586-018-0120-4

PMCID:: PMC6708612

Abstract Article PDF–3.7M

Select item 58672313.

Review of the Diagnosis and Treatment of Periodic Paralysis

Jeffrey M. Statland, Bertrand Fontaine, Michael G. Hanna, Nicholas E. Johnson, John T. Kissel, Valeria A. Sansone, Perry B. Shieh, Rabi N. Tawil, Jaya Trivedi, Stephen C. Cannon, Robert C. Griggs

Muscle Nerve. 2018 Apr; 57(4): 522–530. Published online 2017 Nov 29. doi: 10.1002/mus.26009

PMCID:: PMC5867231

Abstract Article PDF–173K

Select item 57947474.

Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine

Sci Rep. 2018; 8: 2041. Published online 2018 Feb 1. doi: 10.1038/s41598-018-20468-0

PMCID:: PMC5794747

Abstract Article PDF–4.5M

Select item 57159125.

An atypical Ca_V1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis

Stephen C. Cannon

J Gen Physiol. 2017 Dec 4; 149(12): 1061–1064. doi: 10.1085/jgp.201711923

PMCID:: PMC5715912

Abstract Article PDF–587K

Select item 48310406.

Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis

Valeria A. Sansone, James Burge, Michael P. McDermott, Patty C. Smith, Barbara Herr, Rabi Tawil, Shree Pandya, John Kissel, Emma Ciafaloni, Perry Shieh, Jeffrey W. Ralph, Antony Amato, Steve C. Cannon, Jaya Trivedi, Richard Barohn, Brian Crum, Hiroshi Mitsumoto, Alan Pestronk, Giovanni Meola, Robin Conwit, Michael G. Hanna, Robert C. Griggs, For the Muscle Study Group

Neurology. 2016 Apr 12; 86(15): 1408–1416. doi: 10.1212/WNL.0000000000002416

PMCID:: PMC4831040

Abstract Article PDF–371K

Select item 47319257.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 46540618.

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Alberto Bergareche, Marcin Bednarz, Elena Sánchez, Catharine E. Krebs, Javier Ruiz-Martinez, Patricia De La Riva, Vladimir Makarov, Ana Gorostidi, Karin Jurkat-Rott, Jose Felix Marti-Masso, Coro Paisán-Ruiz

Hum Mol Genet. 2015 Dec 15; 24(24): 7111–7120. Published online 2015 Oct 1. doi: 10.1093/hmg/ddv410

PMCID:: PMC4654061

Abstract Article PDF–457K

Select item 39595559.

Na_V1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

James R. Groome, Frank Lehmann-Horn, Chunxiang Fan, Markus Wolf, Vern Winston, Luciano Merlini, Karin Jurkat-Rott

Brain. 2014 Apr; 137(4): 998–1008. Published online 2014 Feb 18. doi: 10.1093/brain/awu015

PMCID:: PMC3959555

Abstract Article PDF–1.0M

Select item 385922610.

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca_v1.1 mutation

Chunxiang Fan, Frank Lehmann-Horn, Marc-André Weber, Marcin Bednarz, James R. Groome, Malin K. B. Jonsson, Karin Jurkat-Rott

Brain. 2013 Dec; 136(12): 3775–3786. Published online 2013 Nov 15. doi: 10.1093/brain/awt300

PMCID:: PMC3859226

Abstract Article PDF–718K

Select item 366236111.

Prevalence study of genetically defined skeletal muscle channelopathies in England

Alejandro Horga, Dipa L. Raja Rayan, Emma Matthews, Richa Sud, Doreen Fialho, Siobhan C.M. Durran, James A. Burge, Simona Portaro, Mary B. Davis, Andrea Haworth, Michael G. Hanna

Neurology. 2013 Apr 16; 80(16): 1472–1475. doi: 10.1212/WNL.0b013e31828cf8d0

PMCID:: PMC3662361

Abstract Article PDF–138K

Select item 366230412.

Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis

Fenfen Wu, Wentao Mi, Stephen C. Cannon

Neurology. 2013 Mar 19; 80(12): 1110–1116. doi: 10.1212/WNL.0b013e3182886a0e

PMCID:: PMC3662304

Abstract Article PDF–698K

Select item 347686213.

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients

DEBORAH CAVEL-GREANT, FRANK LEHMANN-HORN, KARIN JURKAT-ROTT

Acta Myol. 2012 Oct; 31(2): 126–133.

PMCID:: PMC3476862

Abstract Article PDF–257K

Select item 337209014.

Pathophysiological Role of Omega Pore Current in Channelopathies

Karin Jurkat-Rott, James Groome, Frank Lehmann-Horn

Front Pharmacol. 2012; 3: 112. Published online 2012 Jun 11. doi: 10.3389/fphar.2012.00112

PMCID:: PMC3372090

Abstract Article PDF–1.1M

Select item 323535415.

Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

E. Matthews, S. Portaro, Q. Ke, R. Sud, A. Haworth, M.B. Davis, R.C. Griggs, M.G. Hanna

Neurology. 2011 Nov 29; 77(22): 1960–1964. doi: 10.1212/WNL.0b013e31823a0cb6

PMCID:: PMC3235354

Abstract Article PDF–749K

Select item 310008716.

Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia

David G. Francis, Volodymyr Rybalchenko, Arie Struyk, Stephen C. Cannon

Neurology. 2011 May 10; 76(19): 1635–1641. Published online 2011 Apr 13. doi: 10.1212/WNL.0b013e318219fb57

PMCID:: PMC3100087

Abstract Article PDF–771K

Select item 304059217.

State of the art in hereditary muscle channelopathies

K. Jurkat-Rott, F. Lehmann-Horn

Acta Myol. 2010 Oct; 29(2): 343–350.

PMCID:: PMC3040592

Abstract Article PDF–351K

Select item 300633518.

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Ca_vα_1S-subunit

Antonella Pirone, Johann Schredelseker, Petronel Tuluc, Elvira Gravino, Giuliana Fortunato, Bernhard E. Flucher, Antonella Carsana, Francesco Salvatore, Manfred Grabner

Am J Physiol Cell Physiol. 2010 Dec; 299(6): C1345–C1354. Published online 2010 Sep 22. doi: 10.1152/ajpcell.00008.2010

PMCID:: PMC3006335

Abstract Article

Select item 290197619.

Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

E Matthews, M G Hanna

J Physiol. 2010 Jun 1; 588(Pt 11): 1879–1886. Published online 2010 Feb 1. doi: 10.1113/jphysiol.2009.186627

PMCID:: PMC2901976

Abstract Article PDF–261K

Select item 288513920.

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Devon P. Ryan, Magnus R. Dias da Silva, Tuck Wah Soong, Bertrand Fontaine, Matt R. Donaldson, Annie W.C. Kung, Wallaya Jongjaroenprasert, Mui Cheng Liang, Daphne H.C. Khoo, Jin Seng Cheah, Su Chin Ho, Harold S. Bernstein, Rui M.B. Macie, Robert H. Brown, Jr., Louis J. Ptáčcek

Cell. Author manuscript; available in PMC 2010 Jun 14.

Published in final edited form as: Cell. 2010 Jan 8; 140(1): 88–98. doi: 10.1016/j.cell.2009.12.024