Literature DB >> 12117476

An expanding view for the molecular basis of familial periodic paralysis.

Stephen C Cannon1.   

Abstract

The periodic paralyses are rare disorders of skeletal muscle characterized by episodic attacks of weakness due to intermittent failure of electrical excitability. Familial forms of periodic paralysis are all caused by mutations in genes coding for voltage-gated ion channels. New discoveries in the past 2 years have broadened our views on the diversity of phenotypes produced by mutations of a single channel gene and have led to the identification of potassium channel mutations, in addition to those previously found in sodium and calcium channels. This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis.

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Year:  2002        PMID: 12117476     DOI: 10.1016/s0960-8966(02)00007-x

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


  16 in total

1.  The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.

Authors:  Helen A Lindsay; Richard Baines; Richard ffrench-Constant; Kathryn Lilley; Howard T Jacobs; Kevin M C O'Dell
Journal:  Genetics       Date:  2008-08-24       Impact factor: 4.562

Review 2.  Novel etiopathophysiological aspects of thyrotoxic periodic paralysis.

Authors:  Rui M B Maciel; Susan C Lindsey; Magnus R Dias da Silva
Journal:  Nat Rev Endocrinol       Date:  2011-05-10       Impact factor: 43.330

3.  The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.

Authors:  Chongyang Han; Yang Yang; Bianca T A de Greef; Janneke G J Hoeijmakers; Monique M Gerrits; Camiel Verhamme; Jian Qu; Giuseppe Lauria; Ingemar S J Merkies; Catharina G Faber; Sulayman D Dib-Hajj; Stephen G Waxman
Journal:  Neuromolecular Med       Date:  2015-03-20       Impact factor: 3.843

Review 4.  Channelopathies of skeletal muscle excitability.

Authors:  Stephen C Cannon
Journal:  Compr Physiol       Date:  2015-04       Impact factor: 9.090

5.  Inactivation of sodium channels underlies reversible neuropathy during critical illness in rats.

Authors:  Kevin R Novak; Paul Nardelli; Tim C Cope; Gregory Filatov; Jonathan D Glass; Jaffar Khan; Mark M Rich
Journal:  J Clin Invest       Date:  2009-05       Impact factor: 14.808

6.  Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Authors:  Akira Tsujino; Chantal Maertens; Kinji Ohno; Xin-Ming Shen; Taku Fukuda; C Michael Harper; Stephen C Cannon; Andrew G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-23       Impact factor: 11.205

7.  Mexiletine block of wild-type and inactivation-deficient human skeletal muscle hNav1.4 Na+ channels.

Authors:  Ging Kuo Wang; Corinna Russell; Sho-Ya Wang
Journal:  J Physiol       Date:  2003-11-07       Impact factor: 5.182

8.  Persistent human cardiac Na+ currents in stably transfected mammalian cells: Robust expression and distinct open-channel selectivity among Class 1 antiarrhythmics.

Authors:  Ging Kuo Wang; Gabriella Russell; Sho-Ya Wang
Journal:  Channels (Austin)       Date:  2013 Jul-Aug       Impact factor: 2.581

9.  Hybrid assemblies of ATP-sensitive K+ channels determine their muscle-type-dependent biophysical and pharmacological properties.

Authors:  Domenico Tricarico; Antonietta Mele; Andrew L Lundquist; Reshma R Desai; Alfred L George; Diana Conte Camerino
Journal:  Proc Natl Acad Sci U S A       Date:  2006-01-17       Impact factor: 11.205

10.  Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.

Authors:  Hunmin Kim; Hee Hwang; Hae Il Cheong; Hye Won Park
Journal:  Korean J Pediatr       Date:  2011-11-30
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