Journal Articles

Dichlorphenamide: A Review in Primary Periodic Paralyses. Greig SL; Drugs. 2016 Mar;76(4):501-7. doi: 10.1007/s40265-016-0559-2.

Abstract

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. Focal paresis has sometimes already been described. We report a case with atypical clinical manifestation comprising paramyotonia and cold-induced persistent and focal paralysis.

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 mutation  to investigate how the mutation causes the features of HypoKPP.

Neurology. 2013 Feb 20. [Epub ahead of print]
Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.
Wu F, Mi W, Cannon SC.

Source: From the Department of Neurology and Neurotherapeutics (F.W., W.M., S.C.C.) and Program in Neuroscience (S.C.C.), UT Southwestern Medical Center, Dallas, TX.

Abstract

OBJECTIVE:

Severe respiratory phenotype caused by a de novo Arg528Gly mutation in the CACNA1S gene in a patient with hypokalemic periodic paralysis.

Authors Kil TH, et al.

Journal: Eur J Paediatr Neurol. 2010 May;14(3):278-81. doi: 10.1016/j.ejpn.2009.08.004. Epub 2009 Oct 12.

Affiliation: Department of Pediatrics, College of Medicine, Konyang University, 685 Gasoowon-dong, Su-goo, Daejun, Choongnam 302-718, South Korea.

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,*

Abstract


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.
Source
Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Milan, Italy.


Abstract
   Link to pdf copy of entire article 

BACKGROUND AND PURPOSE:

Penn State researcher counts the ways poetess Browning may have had rare disease
By Tom Avril; Philadephia Inquirer Staff Writer

Scholars have proposed a number of explanations for the muscle weakness and other ailments that plagued the Victorian poet Elizabeth Barrett Browning. But none of these after-the-fact diagnoses - from anxiety to tuberculosis - seemed to fit the symptoms perfectly. Now Pennsylvania State University researcher Anne Buchanan thinks she has cracked the case, as the result of an intensely personal connection.

For your convenience, arranged by topic, a "shelf" of journal articles on the periodic paralyses.

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Electrocardiographic Features in Andersen-Tawil Syndrome
Patients With KCNJ2 Mutations

Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype

Li Zhang, MD; D. Woodrow Benson, MD, PhD; Martin Tristani-Firouzi, MD; Louis J. Ptacek, MD;
Rabi Tawil, MD; Peter J. Schwartz, MD; Alfred L. George, MD; Minoru Horie, MD, PhD;
Gregor Andelfinger, MD; Gregory L. Snow, PhD; Ying-Hui Fu, PhD;
Michael J. Ackerman, MD, PhD; G. Michael Vincent, MD