KEGG   DISEASE: Periodic paralysisHelp
Entry
H00215                      Disease                                

Name
Periodic paralysis
  Subgroup
Hyperkalemic periodic paralysis (HyperPP) [DS:H00745]
Hypokalemic periodic paralysis (HypoPP) [DS:H00746]
Andersen-Tawil syndrome (ATS) [DS:H00748]
Description
The periodic paralyses are characterized by episodic muscle weakness often related to potassium levels. They include hyperkalaemic periodic paralysis (HyperPP), hypokalaemic periodic paralysis (HypoPP) and Andersen-Tawil syndrome (ATS) caused by mutations in the calcium-channel, sodium-channel, and potassium-channel genes, respectively.
Category
Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00215  Periodic paralysis
 Congenital disorders of metabolism
  Congenital disorders of ion transport and metabolism
   H00215  Periodic paralysis
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C74  Periodic paralyses or disorders of muscle membrane excitability
     H00215  Periodic paralysis
BRITE hierarchy
Pathway
hsa04725  Cholinergic synapse
Gene
(HyperPP HypoPP) SCN4A; voltage-gated sodium channel [HSA:6329] [KO:K04837]
(HypoPP) CACNA1S; voltage-dependent calcium channel [HSA:779] [KO:K04857]
(HypoPP) KCNE3; voltage-gated potassium channel [HSA:10008] [KO:K04897]
(ATS) KCNJ2; potassium inwardly-rectifying channel [HSA:3759] [KO:K04996]
Drug
Dichlorphenamide [DR:D00518]
Other DBs
ICD-11: 8C74.1
ICD-10: G72.3
MeSH: D020513 D020514 D050030
OMIM: 170500 170400 170390
Reference
  Authors
Sansone V, Meola G, Links TP, Panzeri M, Rose MR
  Title
Treatment for periodic paralysis.
  Journal
Cochrane Database Syst Rev CD005045 (2008)
DOI:10.1002/14651858.CD005045.pub2
Reference
  Authors
Finsterer J
  Title
Primary periodic paralyses.
  Journal
Acta Neurol Scand 117:145-58 (2008)
DOI:10.1111/j.1600-0404.2007.00963.x
Reference
  Authors
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC
  Title
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
  Journal
Brain 129:8-17 (2006)
DOI:10.1093/brain/awh639
Reference
  Authors
Raja Rayan DL, Hanna MG
  Title
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
  Journal
Curr Opin Neurol 23:466-76 (2010)
DOI:10.1097/WCO.0b013e32833cc97e
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