PMC Links for OMIM (Select 603967) - PMC

Irina T. Zaharieva, Michael G. Thor, Emily C. Oates, Clara van Karnebeek, Glenda Hendson, Eveline Blom, Nanna Witting, Magnhild Rasmussen, Michael T. Gabbett, Gianina Ravenscroft, Maria Sframeli, Karen Suetterlin, Anna Sarkozy, Luigi D’Argenzio, Louise Hartley, Emma Matthews, Matthew Pitt, John Vissing, Martin Ballegaard, Christian Krarup, Andreas Slørdahl, Hanne Halvorsen, Xin Cynthia Ye, Lin-Hua Zhang, Nicoline Løkken, Ulla Werlauff, Mena Abdelsayed, Mark R. Davis, Lucy Feng, Rahul Phadke, Caroline A. Sewry, Jennifer E. Morgan, Nigel G. Laing, Hilary Vallance, Peter Ruben, Michael G. Hanna, Suzanne Lewis, Erik-Jan Kamsteeg, Roope Männikkö, Francesco Muntoni

Brain. 2016 Mar; 139(3): 674–691. Published online 2015 Dec 22. doi: 10.1093/brain/awv352

PMCID:: PMC4766374

Abstract Article PDF–1.4M

Select item 47316855.

A recessive Na_v1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

Karima Habbout, Hugo Poulin, François Rivier, Serena Giuliano, Damien Sternberg, Bertrand Fontaine, Bruno Eymard, Raul Juntas Morales, Bernard Echenne, Louise King, Michael G. Hanna, Roope Männikkö, Mohamed Chahine, Sophie Nicole, Said Bendahhou

Neurology. 2016 Jan 12; 86(2): 161–169. doi: 10.1212/WNL.0000000000002264

PMCID:: PMC4731685

Abstract Article PDF–675K

Select item 46540616.

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 45109947.

Defective Fast Inactivation Recovery of Na_v1.4 in Congenital Myasthenic Syndrome

W. David Arnold, Daniel H. Feldman, Sandra Ramirez, Liuyuan He, Darine Kassar, Adam Quick, Tara L. Klassen, Marian Lara, Joanna Nguyen, John T. Kissel, Christoph Lossin, Ricardo A. Maselli

Ann Neurol. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Ann Neurol. 2015 May; 77(5): 840–850. Published online 2015 Mar 27. doi: 10.1002/ana.24389

PMCID:: PMC4510994

Abstract Article PDF–2.0M

Select item 31000878.

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 28481019.

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

E Matthews, R Labrum, M G. Sweeney, R Sud, A Haworth, P F. Chinnery, G Meola, S Schorge, D M. Kullmann, M B. Davis, M G. Hanna

Neurology. 2009 May 5; 72(18): 1544–1547. doi: 10.1212/01.wnl.0000342387.65477.46

PMCID:: PMC2848101

Abstract Article PDF–536K

Select item 280654110.

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

Sang-Chan Lee, Hyang-Sook Kim, Yeong-Eun Park, Young-Chul Choi, Kyu-Hyun Park, Dae-Seong Kim

J Clin Neurol. 2009 Dec; 5(4): 186–191. Published online 2009 Dec 31. doi: 10.3988/jcn.2009.5.4.186

PMCID:: PMC2806541

Abstract Article PDF–617K

Select item 267696911.

NEONATAL HYPOTONIA CAN BE A SODIUM CHANNELOPATHY: RECOGNITION OF A NEW PHENOTYPE

E Matthews, A Guet, M Mayer, S Vicart, S Pemble, D Sternberg, B Fontaine, M G. Hanna

Neurology. 2008 Nov 18; 71(21): 1740–1742. doi: 10.1212/01.wnl.0000335269.21550.0e

PMCID:: PMC2676969

Article PDF–269K

Select item 226090712.

Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness

Lawrence J. Hayward, Joanna S. Kim, Ming-Yang Lee, Hongru Zhou, Ji W. Kim, Kumudini Misra, Mohammad Salajegheh, Fen-fen Wu, Chie Matsuda, Valerie Reid, Didier Cros, Eric P. Hoffman, Jean-Marc Renaud, Stephen C. Cannon, Robert H. Brown, Jr.

J Clin Invest. 2008 Apr 1; 118(4): 1437–1449. Published online 2008 Mar 3. doi: 10.1172/JCI32638

PMCID:: PMC2260907

Abstract Article PDF–1.6M

Select item 217030513.

Familial cramp due to potassium-aggravated myotonia

R. Orrell, K. Jurkat-Rott, F. Lehmann-Horn, R. Lane

J Neurol Neurosurg Psychiatry. 1998 Oct; 65(4): 569–572. doi: 10.1136/jnnp.65.4.569

PMCID:: PMC2170305

Summary PDF–136K

Select item 173867214.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F Brancati, E Valente, N Davies, A Sarkozy, M Sweeney, M LoMonaco, A Pizzuti, M Hanna, B Dallapiccola

J Neurol Neurosurg Psychiatry. 2003 Sep; 74(9): 1339–1341. doi: 10.1136/jnnp.74.9.1339

PMCID:: PMC1738672

Summary PDF–86K

Select item 173734315.

Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica

J Kim, Y Hahn, E Sohn, Y Lee, J Yun, J Kim, J Chung

J Neurol Neurosurg Psychiatry. 2001 May; 70(5): 618–623. doi: 10.1136/jnnp.70.5.618

PMCID:: PMC1737343

Summary PDF–169K

Select item 173685116.

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita

N Davies, L Eunson, R Gregory, K Mills, P Morrison, M Hanna

J Neurol Neurosurg Psychiatry. 2000 Apr; 68(4): 504–507. doi: 10.1136/jnnp.68.4.504

Correction in:: J Neurol Neurosurg Psychiatry. 2000 Jul; 69(1): 139.

PMCID:: PMC1736851

Summary PDF–222K

Select item 114390217.

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.

H Lerche, R Heine, U Pika, A L George, Jr, N Mitrovic, M Browatzki, T Weiss, M Rivet-Bastide, C Franke, M Lomonaco, et al.

J Physiol. 1993 Oct; 470: 13–22. doi: 10.1113/jphysiol.1993.sp019843

PMCID:: PMC1143902

Summary Page Browse PDF–1.3M

Select item 16588318.

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

Akira Tsujino, Chantal Maertens, Kinji Ohno, Xin-Ming Shen, Taku Fukuda, C. Michael Harper, Stephen C. Cannon, Andrew G. Engel

Proc Natl Acad Sci U S A. 2003 Jun 10; 100(12): 7377–7382. Published online 2003 May 23. doi: 10.1073/pnas.1230273100

PMCID:: PMC165883

Abstract Article PDF–288K

Select item 1690219.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

Karin Jurkat-Rott, Nenad Mitrovic, Chao Hang, Alexei Kouzmenkine, Paul Iaizzo, Jürgen Herzog, Holger Lerche, Sophie Nicole, Jose Vale-Santos, Dominique Chauveau, Bertrand Fontaine, Frank Lehmann-Horn

Proc Natl Acad Sci U S A. 2000 Aug 15; 97(17): 9549–9554. doi: 10.1073/pnas.97.17.9549

Correction in:: Proc Natl Acad Sci U S A. 2000 Oct 10; 97(21): 11673.

PMCID:: PMC16902

Abstract Article PDF–276K

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