KEGG DISEASE: Periodic paralysis

KEGG

DISEASE: Periodic paralysis

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 genes encoding for subunits of channel proteins of the skeletal muscle membrane.

Category

Nervous system disease; Musculoskeletal disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H00215  Periodic paralysis

Pathway

Calcium signaling pathway

Network

nt06528 Calcium signaling

Gene

(HYPP HOKPP2) SCN4A [HSA:6329] [KO:K04837]
(HOKPP1) CACNA1S [HSA:779] [KO:K04857]
(ATS) KCNJ2 [HSA:3759] [KO:K04996]

Drug

Dichlorphenamide [DR:D00518]

Other DBs

ICD-11:

ICD-10:

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

Reference

PMID:1659948 (HYPP)

Authors

Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF

Title

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Journal

Cell 67:1021-7 (1991)
DOI:10.1016/0092-8674(91)90374-8

Reference

PMID:10599760 (HOKPP2)

Authors

Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC

Title

A novel sodium channel mutation in a family with hypokalemic periodic paralysis.

Journal

Neurology 53:1932-6 (1999)
DOI:10.1212/wnl.53.9.1932

Reference

PMID:8004673 (HOKPP1)

Authors

Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al.

Title

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Journal

Cell 77:863-8 (1994)
DOI:10.1016/0092-8674(94)90135-X

Reference

PMID:11371347 (ATS)

Authors

Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ

Title

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Journal

Cell 105:511-9 (2001)
DOI:10.1016/s0092-8674(01)00342-7

LinkDB

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