Focal and abnormally persistent paralysis associated with congenital paramyotonia

Submitted by deb on Sun, 11/09/2014 – 21:32 Focal and abnormally persistent paralysis associated with congenital paramyotonia. Magot A1, David A2, Sternberg D3, Péréon Y1. British Medical Journal Case Report 2014 Jun 17;2014. Abstract Mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia….

Sleep Complaints in Periodic Paralysis

Submitted by deb on Mon, 06/27/2011 – 02:57 Giorgio Buzzi, MD, Neurologist Buzzi G, Mostacci B, Sancisi E, Cirignotta F. Sleep complaints in Periodic Paralyses: a web survey. Functional Neurology 2001, 17 (3). From the Sleep Medicine Unit – Dept. of Neurology S.Orsola-Malpighi Hospital – University of Bologna, Italy. SUMMARY Section 1. Background: K+ and REM sleep homeostasis….

Physician’s Reading Room

Submitted by deb on Wed, 09/07/2011 – 03:04 For your convenience, arranged by topic, a “shelf” of journal articles on the periodic paralyses. If you have a favorite link to suggest please pass it along. Textbook and Reviews Meola G, Hanna M G and Fontaine B. Diagnosis and Treatment of Muscle Channelopathies. J Neurol Neurosurg Psychiatry 2009;80:360–365. Dr Michael…

New Findings Suggest Genetics Behind Drug Response

Submitted by deb on Thu, 07/26/2012 – 17:00 PLoS One. 2012; 7(7): e40235.Published online 2012 July 10. Splicing of the rSlo Gene Affects the Molecular Composition and Drug Response of Ca2+-Activated K+ Channels in Skeletal Muscle Maria Maddalena Dinardo,#1 Giulia Camerino,#1 Antonietta Mele,1 Ramon Latorre,2 Diana Conte Camerino,1 and Domenico Tricarico1,* The molecular composition and drug responses…

Leaky Channels make weak muscles

Submitted by deb on Wed, 03/13/2013 – 18:08 Leaky channels make weak muscles: Mutations in the skeletal muscle voltage-gated calcium channel (CaV 1.1) have been associated with hypokalemic periodic paralysis, but how these mutations cause the symptoms of the disorder has always been unclear. In this article the authors describe how they used mice with the CaV 1.1…

Measuring quality of life impairment in periodic paralyses

Submitted by deb on Tue, 07/03/2012 – 18:45 
Measuring quality of life impairment in skeletal muscle channelopathies.
 Eur J Neurol. 2012 May 19. doi: 10.1111/j.1468-1331.2012.03751.x. [Epub ahead of print] Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group.
SourceDepartment of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.
 Abstract   Link to…