TITLE

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A)

AUTHOR(S)
Hanna, M. G.; Stewart, J.; Schapira, A. H. V.; Wood, N. W.; Morgan-Hughes, J. A.; Murray, N. M. F.
PUB. DATE
August 1998
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Aug1998, p248
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
No abstract available.
ACCESSION #
66345643

 

Related Articles

  • PHENOTYPE AND GENOTYPE ANALYSIS OF FAMILIAL PERIODIC PARALYSIS IN IRISH FAMILIES. Kelly, S. B.; Parfrey, N. A.; Ryan, A. M.; Hand, C. K. // Ulster Medical Journal;2009, Vol. 78 Issue 1, p74 

    The familial periodic paralyses are caused by autosomal dominant mutations of skeletal muscle ion channels leading to altered membrane excitability. The disorders are characterised by episodes of limb weakness and paralysis lasting minutes to hours. Hyperkalaemic periodic paralysis (Hyper PP) is...

  • Inherited ion channel disorders. Surtees, Robert // European Journal of Pediatrics;2000, Vol. 159 Issue 15, pS199 

    Abstract The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle...

  • Inherited ion channel disorders. Surtees, Robert // European Journal of Pediatrics. Supplement;2000, Vol. 159, pS199 

    The inherited ion channel disorders (channelopathies) are a group of disorders caused by mutations in genes encoding ion channels. Ion channel disorders can affect any tissue, but the majority affect skeletal muscle or the central nervous system. These disorders include skeletal muscle sodium...

  • Human skeletal muscle sodium channelopathies. Vicart, S.; Sternberg, D.; Fontaine, B.; Meola, G. // Neurological Sciences;Oct2005, Vol. 26 Issue 4, p194 

    Ion channels are transmembrane proteins that allow ions to flow in or out of the cell. Sodium and potassium channel activation and inactivation are the basis of action potential’s production and conduction. During the past 15 years, ion channels have been implicated in diseases that have...

  • Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene. Gyung-Min Lee; June-Bum Kim // Neurology Asia;Jun2011, Vol. 16 Issue 2, p163 

    Familial hyperkalemic periodic paralysis is an autosomal-dominant channelopathy characterized by reversible paralysis associated with episodic hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene (SCN4A) have been reported to be responsible for this disorder....

  • Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysis in a Family of South Indian Descent. Subramanian, Muthiah; Senthil, N.; Sujatha, S. // Case Reports in Neurological Medicine;3/29/2015, Vol. 2015, p1 

    Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes. They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes. We describe a...

  • Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review. Saleem, Rashid; Setty, Gururaj; Khan, Arif; Farrell, Duncan; Hussain, Nahin // Journal of Pediatric Neurosciences;May-Aug2013, Vol. 8 Issue 2, p138 

    Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle...

  • Muscle channelopathies and electrophysiological approach. Cherian, Ajith; Baheti, Neeraj N.; Kuruvilla, Abraham // Annals of Indian Academy of Neurology;Mar2008, Vol. 11 Issue 1, p20 

    Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and...

  • Muscle channelopathies and electrophysiological approach. Cherian, Ajith; Baheti, Neeraj N.; Kuruvilla, Abraham // Annals of Indian Academy of Neurology;Jan2008, Vol. 11 Issue 1, p20 

    Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and...

  • Management and Treatment of Andersen-Tawil Syndrome (ATS) Sansone, Valeria; Tawil, Rabi // Neurotherapeutics;Apr2007, Vol. 4 Issue 2, p233 

    Summary: Andersen-Tawil syndrome (ATS) is characterized by periodic paralysis, cardiac arrhythmias, and distinct facial and skeletal features. The majority of patients with ATS (ATS1) have point mutations in the KCNJ2 gene, which encodes the inward-rectifying potassium channel known as Kir2.1....

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

Sign out of this library

Other Topics