PMID: 11898585Mar 20, 2002Paper

Periodic paralysis: understanding channelopathies

Current Neurology and Neuroscience Reports
Frank Lehmann-HornReinhardt Rüdel

Abstract

Familial periodic paralyses are typical channelopathies (i.e., caused by functional disturbances of ion channel proteins). The episodes of flaccid muscle weakness observed in these disorders are due to underexcitability of sarcolemma leading to a silent electromyogram and the lack of action potentials even upon electrical stimulation. Interictally, ion channel malfunction is well compensated, so that special exogenous or endogenous triggers are required to produce symptoms in the patients. An especially obvious trigger is the level of serum potassium (K+), the ion responsible for resting membrane potential and degree of excitability. The clinical symptoms can be caused by mutations in genes coding for ion channels that mediate different functions for maintaining the resting potential or propagating the action potential, the basis of excitability. The phenotype is determined by the type of functional defect brought about by the mutations, rather than the channel effected, because the contrary phenotypes hyperkalemic periodic paralysis (HyperPP) and hypokalemic periodic paralysis (HypoPP) may be caused by point mutations in the same gene. Still, the common mechanism for inexcitability in all known episodic-weakness phenotypes is ...Continue Reading

References

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Citations

Feb 24, 2005·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Friedrich C Luft
Mar 3, 2007·Pflügers Archiv : European journal of physiology·Alexey KuzmenkinKarin Jurkat-Rott
Oct 1, 2009·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Anindya BhattacharyaSandra R Chaplan
Feb 9, 2012·Clinical Neurology and Neurosurgery·Saskia EbusWim I M Verhagen
Sep 11, 2007·Neuromuscular Disorders : NMD·Domenico TricaricoDiana Conte Camerino
Aug 15, 2014·The Journal of Membrane Biology·Dhiraj KumarPravir Kumar
Nov 23, 2007·Acta Neurologica Scandinavica·J Finsterer
May 1, 2008·Clinical and Translational Science·Sofija JovanovićAleksandar Jovanović
Jun 28, 2013·Paediatric Anaesthesia·Oliver Bandschapp, Paul A Iaizzo
Apr 12, 2016·NMR in Biomedicine·Armin M NagelVictor D Schepkin
May 2, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Peter C Thuss-PatiencePeter Reichardt
Apr 28, 2005·Expert Review of Neurotherapeutics·Giuliano AvanziniRocco Liguori
Sep 14, 2004·Journal of Neurobiology·John N WoodMark D Baker
Oct 21, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Lauren Phillips, Jaya R Trivedi
Oct 1, 2005·Brain : a Journal of Neurology·S L VenanceUNKNOWN CINCH investigators
Mar 2, 2021·Journal of Neuromuscular Diseases·Natasha Lervaag WellandMarianne Nordstrøm

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