MCID: PRD017
MIFTS: 29

Periodic Paralyses

Categories: Genetic diseases

Aliases & Classifications for Periodic Paralyses

MalaCards integrated aliases for Periodic Paralyses:

Name: Periodic Paralyses 54

Classifications:



Summaries for Periodic Paralyses

NINDS : 54 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are:Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life.Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.

MalaCards based summary : Periodic Paralyses is related to myotonia congenita and malignant hyperthermia. An important gene associated with Periodic Paralyses is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Dichlorphenamide and Lamotrigine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotypes are shRNA abundance <= 50% and digestive/alimentary

Related Diseases for Periodic Paralyses

Graphical network of the top 20 diseases related to Periodic Paralyses:



Diseases related to Periodic Paralyses

Symptoms & Phenotypes for Periodic Paralyses

GenomeRNAi Phenotypes related to Periodic Paralyses according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

MGI Mouse Phenotypes related to Periodic Paralyses:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 CACNA1S KCNE3 KCNJ2
2 muscle MP:0005369 9.13 CACNA1S KCNJ2 SCN4A
3 respiratory system MP:0005388 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

Drugs & Therapeutics for Periodic Paralyses

Drugs for Periodic Paralyses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
3 Hops Approved, Nutraceutical Phase 3
4 calcium channel blockers Phase 3
5 Sodium Channel Blockers Phase 3
6 Neurotransmitter Agents Phase 3
7 Diuretics, Potassium Sparing Phase 3
8 Excitatory Amino Acid Antagonists Phase 3
9 Excitatory Amino Acids Phase 3
10 Anticonvulsants Phase 3
11 Carbonic Anhydrase Inhibitors Phase 3
12 Calcium, Dietary Phase 3
13
Bumetanide Approved Phase 2 28395-03-1 2471
14 diuretics Phase 2
15 Natriuretic Agents Phase 2
16 Sodium Potassium Chloride Symporter Inhibitors Phase 2
17 calcitonin
18 Antibodies
19 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hyper- and Hypokalemic Periodic Paralysis Study Completed NCT00494507 Phase 3 Dichlorphenamide (double-blind);Placebo (double-blind);Dichlorphenamide (open-label)
2 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide
3 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
4 Bumetanide in Hypokalaemic Periodic Paralysis Terminated NCT02582476 Phase 2 Bumetanide;Placebo
5 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Unknown status NCT02287363
6 Genetic Analysis of Thyrotoxic Periodic Paralysis Completed NCT00443833
7 Characteristics of Andersen-Tawil Syndrome Completed NCT00521794

Search NIH Clinical Center for Periodic Paralyses

Genetic Tests for Periodic Paralyses

Anatomical Context for Periodic Paralyses

MalaCards organs/tissues related to Periodic Paralyses:

41
Skeletal Muscle

Publications for Periodic Paralyses

Articles related to Periodic Paralyses:

(show all 37)
# Title Authors Year
1
Substitutions of the S4DIV R2 residue (R1451) in Na<sub>V</sub>1.4 lead to complex forms of paramyotonia congenita and periodic paralyses. ( 29391559 )
2018
2
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. ( 27082780 )
2016
3
Dichlorphenamide: A Review in Primary Periodic Paralyses. ( 26941026 )
2016
4
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. ( 27643779 )
2016
5
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. ( 25063199 )
2014
6
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. ( 23802937 )
2013
7
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. ( 24305449 )
2013
8
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. ( 21687503 )
2011
9
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. ( 19571750 )
2009
10
Periodic paralyses: when channels go wrong. ( 18281721 )
2008
11
Primary periodic paralyses. ( 18031562 )
2008
12
Paroxysmal muscle weakness: the familial periodic paralyses. ( 17139526 )
2006
13
The primary periodic paralyses: diagnosis, pathogenesis and treatment. ( 16195244 )
2006
14
Patient page. Attacks of immobility caused by diet or exercise? The mystery of periodic paralyses. ( 15534231 )
2004
15
Correlating phenotype and genotype in the periodic paralyses. ( 15534250 )
2004
16
Periodic paralyses and nondystrophic myotonias. ( 11908229 )
2002
17
Sleep complaints in periodic paralyses: a web survey. ( 11769870 )
2001
18
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses. ( 10720928 )
2000
19
Periodic paralyses. ( 10658175 )
2000
20
Channelopathies: potassium-related periodic paralyses and similar disorders. ( 11235435 )
2000
21
Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. ( 10632100 )
2000
22
The familial periodic paralyses and nondystrophic myotonias. ( 9688022 )
1998
23
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995. ( 9131654 )
1997
24
Muscle fiber conduction velocity in situ in hypokalemic periodic paralyses. ( 9325474 )
1997
25
Channelopathies: the nondystrophic myotonias and periodic paralyses. ( 8795846 )
1996
26
Periodic paralyses. ( 8771893 )
1996
27
Hereditary nondystrophic myotonias and periodic paralyses. ( 8542048 )
1995
28
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany. ( 7689382 )
1993
29
Sodium channel gene defects in the periodic paralyses. ( 1330128 )
1992
30
The periodic paralyses. ( 1331137 )
1992
31
Are myotonias and periodic paralyses associated with susceptibility to malignant hyperthermia? ( 2248848 )
1990
32
The periodic paralyses. ( 3065596 )
1988
33
The myotonic disorders and the periodic paralyses. ( 888733 )
1977
34
A summary review of the diagnosis and pathology of the primary familial periodic paralyses. ( 1094905 )
1975
35
Calcification within muscle fibres in the periodic paralyses. ( 4255134 )
1971
36
Electron microscopic observations in primary hypokalemic and thyrotoxic periodic paralyses. ( 5957594 )
1966
37
THE PERIODIC PARALYSES: DIFFERENTIAL FEATURES AND PATHOLOGICAL OBSERVATIONS IN PERMANENT MYOPATHIC WEAKNESS. ( 14188278 )
1964

Variations for Periodic Paralyses

Expression for Periodic Paralyses

Search GEO for disease gene expression data for Periodic Paralyses.

Pathways for Periodic Paralyses

GO Terms for Periodic Paralyses

Cellular components related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.96 KCNE3 KCNJ2
2 T-tubule GO:0030315 8.62 CACNA1S KCNJ2

Biological processes related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.46 KCNE3 KCNJ2
2 potassium ion transmembrane transport GO:0071805 9.43 KCNE3 KCNJ2
3 muscle contraction GO:0006936 9.4 CACNA1S SCN4A
4 cardiac conduction GO:0061337 9.37 CACNA1S KCNJ2
5 regulation of heart rate by cardiac conduction GO:0086091 9.32 KCNE3 KCNJ2
6 membrane depolarization during action potential GO:0086010 9.26 CACNA1S SCN4A
7 ion transport GO:0006811 9.26 CACNA1S KCNE3 KCNJ2 SCN4A
8 regulation of membrane repolarization GO:0060306 9.16 KCNE3 KCNJ2
9 regulation of ion transmembrane transport GO:0034765 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

Molecular functions related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.96 CACNA1S SCN4A
2 voltage-gated ion channel activity GO:0005244 8.8 CACNA1S KCNJ2 SCN4A

Sources for Periodic Paralyses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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