MCID: MYK002
MIFTS: 46

Myokymia malady

Genetic diseases (common) category
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Summaries for Myokymia

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Wikipedia:65 Myokymia (from the Greek -m?s - ?muscle,? + k?m, -k?mia - \"something swollen\" or -k?mos - \"wave\"),... more...

MalaCards based summary: Myokymia is related to episodic ataxia and episodic ataxia type 1. An important gene associated with Myokymia is KCNQ2 (potassium voltage-gated channel, KQT-like subfamily, member 2), and among its related pathways are Interaction between L1 and Ankyrins and Antiarrhythmic Pathway, Pharmacodynamics. The compounds retigabine and linopirdine have been mentioned in the context of this disorder. Affiliated tissues include tongue, brain and eye, and related mouse phenotypes are homeostasis/metabolism and nervous system.

Description from OMIM:46 121200

Aliases & Classifications for Myokymia

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Myokymia, Aliases & Descriptions:

Name: Myokymia 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Myokymia

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Diseases related to Myokymia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia30.9KCNQ3, KCNA6
2episodic ataxia type 130.7CACNA1A, KCNA1
3neuropathy30.4CACNA1A, KCNA1
4spinocerebellar ataxia30.2CACNA1A, ATXN3
5hereditary ataxia30.1ATXN3, CACNA1A
6cerebellar ataxia30.0CACNA1A, ATXN3
7ataxia10.5
8multiple sclerosis10.3
9myokymia with neonatal epilepsy10.3
10dyskinesia, familial, with facial myokymia10.3
11isolated facial myokymia10.3
12benign neonatal seizures10.2KCNQ3, KCNQ2
13spinocerebellar ataxia type 610.2KCNA1, CACNA1A
14myotonia10.2
15tremor10.2
16idiopathic generalized epilepsy10.2KCNQ2, KCNQ3
17spinocerebellar degeneration10.2ATXN3, CACNA1A
18olivopontocerebellar atrophy10.2ATXN3, CACNA1A
19spinocerebellar ataxia type 1210.2CACNA1A, ATXN3
20neuronitis10.2
21hemifacial spasm10.2
22spinocerebellar ataxia type 1710.1ATXN3, CACNA1A
23machado-joseph disease10.1CACNA1A, ATXN3
24dentatorubral-pallidoluysian atrophy10.1CACNA1A, ATXN3
25convulsions benign familial neonatal dominant form10.1KCNA1, KCNQ3, KCNQ2
26frontal lobe epilepsy10.1KCNQ2, KCNQ3, KCNA1
27febrile seizures10.1KCNA1, KCNQ3, KCNQ2
28friedreich ataxia10.1CACNA1A, ATXN3
29amyotrophic lateral sclerosis10.1
30motor neuron disease10.1
31lateral sclerosis10.1
32nasopharyngitis10.1
33dystonia10.1
34laryngitis10.1
35polyradiculoneuropathy10.1
36thymoma10.1
37myokymia 1 with or without hypomagnesemia10.1
38prion disease10.1KCNQ2, KCNQ3
39huntington's disease9.9CACNA1A, ATXN3
40arteriovenous fistula9.9
41charcot-marie-tooth disease9.9
42hepatitis9.9
43hepatitis b9.9
44hydrocephalus9.9
45multiple system atrophy9.9
46retinitis pigmentosa9.9
47spinal stenosis9.9
48eosinophilia-myalgia syndrome9.9
49hypoglycemia9.9
50chronic inflammatory demyelinating polyradiculoneuropathy9.9

Graphical network of the top 20 diseases related to Myokymia:



Diseases related to myokymia

Symptoms for Myokymia

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Clinical features from OMIM:

121200

Drugs & Therapeutics for Myokymia

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Drug clinical trials:

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Search NIH Clinical Center for Myokymia

Genetic Tests for Myokymia

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Anatomical Context for Myokymia

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MalaCards organs/tissues related to Myokymia:

32
Tongue, Brain, Eye, Smooth muscle, Thyroid, Skin

Animal Models for Myokymia or affiliated genes

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MGI Mouse Phenotypes related to Myokymia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.4CACNA1A, ADCY5, KCNA1, KCNQ3, KCNA5, KCNA6
2MP:00036317.3ATXN3, KCNA5, KCNQ2, KCNQ3, KCNA1, CACNA1A
3MP:00053867.1CACNA1A, ATXN3, KCNA6, KCNQ2, KCNQ3, KCNA1

Publications for Myokymia

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Articles related to Myokymia:

(show top 50)    (show all 247)
idTitleAuthorsYear
1
A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. (24708069)
2014
2
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. (24700542)
2014
3
Teaching Video NeuroImages: myokymia and nerve hyperexcitability as components of Morvan syndrome due to malignant thymoma. (23359380)
2013
4
Images in clinical medicine. Perioral myokymia. (23343078)
2013
5
Delayed cervicobulbar neuronopathy and myokymia after head and neck radiotherapy for nasopharyngeal carcinoma: a case report. (21321494)
2011
6
Unilateral facial myokymia in a dog with an intracranial meningioma. (20726972)
2010
7
Isolated laryngeal myokymia: diagnosis and treatment. (20683936)
2010
8
Conus medullaris lesion causing bilateral lower limb myokymia. (21687270)
2009
9
Recurrent superior oblique myokymia in a patient with retinitis pigmentosa. (15040778)
2004
10
Myokymia in obstetrically related brachial plexopathy. (19078741)
2004
11
Three-dimensional eye movement analysis of superior oblique myokymia. (12654387)
2003
12
Myokymia, neuromyotonia, dermatomyositis, and voltage-gated K+ channel antibodies. (12766989)
2003
13
Superior oblique myokymia: magnetic resonance imaging support for the neurovascular compression hypothesis. (11891831)
2002
14
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. (11572947)
2001
15
Myokymia and neuromyotonia. (11745985)
2001
16
When is myokymia neuromyotonia? (11180199)
2001
17
Facial myokymia associated with an isolated lesion of the facial nucleus. (11551241)
2001
18
Tongue and limb myokymia in amyotrophic lateral sclerosis. (10563654)
1999
19
Clozapine-induced myokymia. (9585344)
1998
20
Microvascular decompression for superior oblique myokymia: first experience. Case report. (9833830)
1998
21
Facial myokymia: segmental demyelination demonstrated by magnetic stimulation. (8559179)
1996
22
Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. (7762567)
1995
23
Botulinum toxin A is effective in treating trismus associated with postradiation myokymia and muscle spasm. (8552127)
1995
24
Pain syndrome and focal myokymia due to anterior interosseous neurovascular relationships: report of a case and neurophysiological considerations. (7897517)
1995
25
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. (7561920)
1995
26
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (7842011)
1994
27
Superior oblique myokymia--a topical solution? (7848989)
1994
28
Magnetic resonance imaging of the superior oblique muscle in superior oblique myokymia. (7714701)
1994
29
Intractable orbicularis myokymia: treatment alternatives. (2733995)
1989
30
Gold neurotoxicity and myokymia. (3379631)
1988
31
Myokymia of the tongue in a case of brainstem tumour that simulated motor-neuron disease. (3185343)
1988
32
Abduction-adduction hand tremor of myokymia. (3368084)
1988
33
Hemifacial spasm and facial myokymia: electrophysiological findings. (3614256)
1987
34
Superior oblique myokymia in a case of hereditary metabolic neurodegenerative disease (adrenoleucodystrophy). (6675809)
1983
35
Superior oblique myokymia. A misnomer. (6224814)
1983
36
Generalized myokymia and gold therapy. (7103785)
1982
37
Superior oblique myokymia. An electromyographical analysis. (6947598)
1980
38
Isaacs syndrome with laryngeal involvement: an unusual presentation of myokymia. (574225)
1979
39
Myokymia, muscle hypertrophy and percussion "myotonia" in chronic recurrent polyneuropathy. (568731)
1978
40
Myokymia, not myotonia. (871868)
1977
41
Duane's uniocular micro-tremor or superior oblique myokymia of Hoyt and Keane. (923408)
1977
42
Myokymia, unusual side-effect of clofibrate. (63766)
1976
43
Facial myokymia and brain stem tumor. (1248494)
1976
44
Letter: Myokymia vs transient rippling of the skin. (1267464)
1976
45
Hereditary myokymia and periodic ataxia. (1170284)
1975
46
Superior oblique myokymia. (4759418)
1973
47
Generalized muscular stiffness, fasciculations, and myokymia of peripheral nerve origin. (4314165)
1970
48
Myokymia with impaired muscular relaxation. (4178245)
1969
49
Facial myokymia affecting the electroencephalogram. (5297878)
1967
50
Facial myokymia. (5939094)
1966

Variations for Myokymia

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UniProtKB/Swiss-Prot genetic disease variations for Myokymia:

64
id Symbol AA change Variation ID SNP ID
1KCNQ2p.Arg214TrpVAR_010929rs28939684
2KCNQ2p.Tyr284CysVAR_010930rs28939683
3KCNQ2p.Ala306ThrVAR_010931
4KCNQ2p.Arg207TrpVAR_026987
5KCNQ2p.Met208ValVAR_026988
6KCNQ2p.His228GlnVAR_026989
7KCNQ2p.Leu243PheVAR_026990
8KCNQ2p.Arg333GlnVAR_026992
9KCNQ2p.Lys554AsnVAR_026993

Clinvar genetic disease variations for Myokymia:

6 (show all 71)
id Gene Name Type Significance SNP ID Assembly Location
1KCNQ2NM_172107.2(KCNQ2): c.1016T> G (p.Leu339Arg)single nucleotide variantPathogenicrs118192217GRCh37Chr 20, 62069985: 62069985
2KCNQ2NM_172107.2(KCNQ2): c.1057C> G (p.Arg353Gly)single nucleotide variantPathogenicrs118192218GRCh37Chr 20, 62065223: 62065223
3KCNQ2NM_172107.2(KCNQ2): c.1076C> A (p.Thr359Lys)single nucleotide variantPathogenicrs118192219GRCh37Chr 20, 62065204: 62065204
4KCNQ2NM_172109.1(KCNQ2): c.1119G> A (p.Arg373=)single nucleotide variantPathogenicrs397507449GRCh37Chr 20, 62065161: 62065161
5KCNQ2NM_172107.2(KCNQ2): c.1192_1193delAA (p.Lys398Glufs)deletionPathogenicrs118192222GRCh37Chr 20, 62059744: 62059745
6KCNQ2NM_172107.2(KCNQ2): c.1217+2T> Gsingle nucleotide variantPathogenicrs118192223GRCh37Chr 20, 62059718: 62059718
7KCNQ2NM_172107.2(KCNQ2): c.1288C> T (p.Pro430Ser)single nucleotide variantPathogenicrs118192224GRCh37Chr 20, 62050985: 62050985
8KCNQ2NM_172107.2(KCNQ2): c.1342C> T (p.Arg448Ter)single nucleotide variantPathogenicrs118192226GRCh37Chr 20, 62046439: 62046439
9KCNQ2NM_172107.2(KCNQ2): c.1525+1G> Asingle nucleotide variantPathogenicrs118192228GRCh37Chr 20, 62046255: 62046255
10KCNQ2NM_172107.2(KCNQ2): c.1569_1582delCCCCTGCGAGTTTG (p.Pro524Aspfs)deletionPathogenicrs118192230GRCh37Chr 20, 62045490: 62045503
11KCNQ2NM_172107.2(KCNQ2): c.1632-1G> Tsingle nucleotide variantPathogenicrs118192233GRCh37Chr 20, 62044935: 62044935
12KCNQ2NM_172107.2(KCNQ2): c.1658G> A (p.Arg553Gln)single nucleotide variantPathogenicrs118192234GRCh37Chr 20, 62044908: 62044908
13KCNQ2NM_172107.2(KCNQ2): c.1741C> T (p.Arg581Ter)single nucleotide variantPathogenicrs118192236GRCh37Chr 20, 62044825: 62044825
14KCNQ2NM_172107.2(KCNQ2): c.1742G> A (p.Arg581Gln)single nucleotide variantPathogenicrs118192235GRCh37Chr 20, 62044824: 62044824
15KCNQ2NM_172107.2(KCNQ2): c.1764A> T (p.Arg588Ser)single nucleotide variantPathogenicrs118192237GRCh37Chr 20, 62039889: 62039889
16KCNQ2NM_172107.2(KCNQ2): c.1910T> G (p.Leu637Arg)single nucleotide variantPathogenicrs118192240GRCh37Chr 20, 62038706: 62038706
17KCNQ2NM_172107.2(KCNQ2): c.1930delT (p.Tyr644Thrfs)deletionPathogenicrs118192241GRCh37Chr 20, 62038686: 62038686
18KCNQ2NM_172107.2(KCNQ2): c.1956delG (p.Thr653Glnfs)deletionPathogenicrs118192242GRCh37Chr 20, 62038660: 62038660
19KCNQ2NM_172107.2(KCNQ2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs118192185GRCh37Chr 20, 62103816: 62103816
20KCNQ2NM_172107.2(KCNQ2): c.2015delG (p.Ser672Thrfs)deletionPathogenicrs118192243GRCh37Chr 20, 62038601: 62038601
21KCNQ2NM_172107.2(KCNQ2): c.204dupC (p.Lys69Glnfs)duplicationPathogenicrs118192188GRCh37Chr 20, 62103612: 62103613
22KCNQ2NM_172107.2(KCNQ2): c.232delC (p.Gln78Argfs)deletionPathogenicrs118192189GRCh37Chr 20, 62103585: 62103585
23KCNQ2NM_172107.2(KCNQ2): c.2597delG (p.Gly866Alafs)deletionPathogenicrs118192245GRCh37Chr 20, 62038019: 62038019
24KCNQ2NM_172107.2(KCNQ2): c.2604_2605insGGGCC (p.Arg871Glyfs)insertionPathogenicrs118192246GRCh37Chr 20, 62038011: 62038012
25KCNQ2NM_172107.2(KCNQ2): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs118192186GRCh37Chr 20, 62103815: 62103815
26KCNQ2NM_172107.2(KCNQ2): c.314_316delCCT (p.Ser105del)deletionPathogenicrs118192191GRCh37Chr 20, 62078171: 62078173
27KCNQ2NM_172107.2(KCNQ2): c.346_348delAAG (p.Lys116del)deletionPathogenicrs118192192GRCh37Chr 20, 62078139: 62078141
28KCNQ2NM_172107.2(KCNQ2): c.356A> G (p.Glu119Gly)single nucleotide variantPathogenicrs118192193GRCh37Chr 20, 62078131: 62078131
29KCNQ2NM_172107.2(KCNQ2): c.365C> T (p.Ser122Leu)single nucleotide variantPathogenicrs118192194GRCh37Chr 20, 62078122: 62078122
30KCNQ2NM_172107.2(KCNQ2): c.387+1G> Tsingle nucleotide variantPathogenicrs118192195GRCh37Chr 20, 62078099: 62078099
31KCNQ2NM_172107.2(KCNQ2): c.388-2_388delAGGdeletionPathogenicrs118192196GRCh37Chr 20, 62076717: 62076719
32KCNQ2NM_172107.2(KCNQ2): c.584_593delCTGCGCTCCGinsA (p.Ser195Ter)indelPathogenicrs118192197GRCh37Chr 20, 62076109: 62076118
33KCNQ2NM_172107.2(KCNQ2): c.585dupT (p.Ala196Cysfs)duplicationPathogenicrs118192198GRCh37Chr 20, 62076116: 62076117
34KCNQ2NM_172107.2(KCNQ2): c.587C> T (p.Ala196Val)single nucleotide variantPathogenicrs118192199GRCh37Chr 20, 62076115: 62076115
35KCNQ2NM_172107.2(KCNQ2): c.622A> G (p.Met208Val)single nucleotide variantPathogenicrs118192201GRCh37Chr 20, 62076080: 62076080
36KCNQ2NM_172107.2(KCNQ2): c.635A> G (p.Asp212Gly)single nucleotide variantPathogenicrs118192202GRCh37Chr 20, 62076067: 62076067
37KCNQ2NM_172107.2(KCNQ2): c.637C> T (p.Arg213Trp)single nucleotide variantPathogenicrs118192203GRCh37Chr 20, 62076065: 62076065
38KCNQ2NM_172107.2(KCNQ2): c.63_66delGGTG (p.Val22Alafs)deletionPathogenicrs118192187GRCh37Chr 20, 62103751: 62103754
39KCNQ2NM_172107.2(KCNQ2): c.684C> A (p.His228Gln)single nucleotide variantPathogenicrs118192204GRCh37Chr 20, 62076018: 62076018
40KCNQ2NM_172107.2(KCNQ2): c.727C> T (p.Leu243Phe)single nucleotide variantPathogenicrs118192205GRCh37Chr 20, 62073848: 62073848
41KCNQ2NM_172107.2(KCNQ2): c.740C> A (p.Ser247Ter)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
42KCNQ2NM_172107.2(KCNQ2): c.749T> G (p.Val250Gly)single nucleotide variantPathogenicrs118192206GRCh37Chr 20, 62073826: 62073826
43KCNQ2NM_172107.2(KCNQ2): c.773A> G (p.Asn258Ser)single nucleotide variantPathogenicrs118192207GRCh37Chr 20, 62073802: 62073802
44KCNQ2NM_172107.2(KCNQ2): c.807G> A (p.Trp269Ter)single nucleotide variantPathogenicrs118192208GRCh37Chr 20, 62073768: 62073768
45KCNQ2NM_172107.2(KCNQ2): c.812G> T (p.Gly271Val)single nucleotide variantPathogenicrs118192209GRCh37Chr 20, 62073763: 62073763
46KCNQ2NM_172107.2(KCNQ2): c.847_848insGT (p.Lys283Serfs)insertionPathogenicrs118192210GRCh37Chr 20, 62071030: 62071031
47KCNQ2NM_172107.2(KCNQ2): c.881C> G (p.Ala294Gly)single nucleotide variantPathogenicrs118192211GRCh37Chr 20, 62070997: 62070997
48KCNQ2NM_172107.2(KCNQ2): c.910_912delTTC (p.Phe305del)deletionPathogenicrs118192212GRCh37Chr 20, 62070966: 62070968
49KCNQ2NM_172107.2(KCNQ2): c.939dupG (p.Ser314Valfs)duplicationPathogenicrs118192213GRCh37Chr 20, 62070061: 62070062
50KCNQ2NM_172107.2(KCNQ2): c.967C> T (p.Gln323Ter)single nucleotide variantPathogenicrs118192214GRCh37Chr 20, 62070034: 62070034
51KCNQ2NM_172107.2(KCNQ2): c.997C> T (p.Arg333Trp)single nucleotide variantPathogenicrs118192215GRCh37Chr 20, 62070004: 62070004
52KCNQ2NM_172107.2(KCNQ2): c.998G> A (p.Arg333Gln)single nucleotide variantPathogenicrs118192216GRCh37Chr 20, 62070003: 62070003
53KCNQ2NM_172107.2(KCNQ2): c.296+1G> Asingle nucleotide variantPathogenicrs118192190GRCh37Chr 20, 62103520: 62103520
54KCNQ2NM_172107.2(KCNQ2): c.1302-1G> Csingle nucleotide variantPathogenicrs118192225GRCh37Chr 20, 62046480: 62046480
55KCNQ2NM_172107.2(KCNQ2): c.1764-2A> Gsingle nucleotide variantPathogenicrs118192238GRCh37Chr 20, 62039891: 62039891
56KCNQ2NM_172107.2(KCNQ2): c.1764-6C> Asingle nucleotide variantPathogenicrs118192239GRCh37Chr 20, 62039895: 62039895
57KCNQ2NM_172107.2(KCNQ2): c.1148+2T> Gsingle nucleotide variantPathogenicrs118192221GRCh37Chr 20, 62062691: 62062691
58KCNQ2NP_742105.1: p.Lys554Asnundetermined variantPathogenic
59KCNQ2NM_172107.2: c.(1228_1230)del12deletionPathogenic
60KCNQ2NC_000020.10: g.62015806_62064474del48669deletionPathogenicGRCh37Chr 20, 62015806: 62064474
61KCNQ2NM_172107.2(KCNQ2): c.851A> G (p.Tyr284Cys)single nucleotide variantPathogenicrs28939683GRCh37Chr 20, 62071027: 62071027
62KCNQ2NM_172107.2(KCNQ2): c.916G> A (p.Ala306Thr)single nucleotide variantPathogenicrs74315390GRCh37Chr 20, 62070962: 62070962
63KCNQ2NM_172107.2(KCNQ2): c.1684_1685insGCCCT (p.Tyr562Cysfs)insertionPathogenicrs118192231GRCh37Chr 20, 62044881: 62044882
64KCNQ2KCNQ2, 1-BP DEL, 1846TdeletionPathogenic
65KCNQ2NM_172107.2(KCNQ2): c.640C> T (p.Arg214Trp)single nucleotide variantPathogenicrs28939684GRCh37Chr 20, 62076062: 62076062
66KCNQ2NM_172107.2(KCNQ2): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs74315391GRCh37Chr 20, 62076083: 62076083
67KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
68KCNQ2NM_172107.2(KCNQ2): c.1662G> T (p.Lys554Asn)single nucleotide variantPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
69KCNQ2NM_172107.2(KCNQ2): c.740C> G (p.Ser247Trp)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835
70KCNQ2NM_172107.2(KCNQ2): c.2127delT (p.Val710Serfs)deletionPathogenicrs118192244GRCh37Chr 20, 62038489: 62038489
71KCNQ2NM_172107.2(KCNQ2): c.620G> A (p.Arg207Gln)single nucleotide variantPathogenicrs118192200GRCh37Chr 20, 62076082: 62076082

Expression for genes affiliated with Myokymia

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Expression patterns in normal tissues for genes affiliated with Myokymia

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Pathways for genes affiliated with Myokymia

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Pathways related to Myokymia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7KCNQ3, KCNQ2
29.3KCNA5, KCND3
3
Show member pathways
Development Ligand independent activation of ESR1 and ESR260
9.3CACNA1A, ADCY5
4
Show member pathways
9.3CACNA1A, ADCY5
58.9CACNA1A, KCNQ3, KCNQ2
68.5KCNQ2, KCNQ3, KCNA1, CACNA1A
7
Show member pathways
8.5KCNQ2, KCNQ3, ADCY5, CACNA1A
8
Show member pathways
7.7KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1, KCND3
96.5KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1, KCND3
10
Show member pathways
6.5CACNA1A, KCNA6, ADCY5, KCND3, KCNA1, KCNQ3

Compounds for genes affiliated with Myokymia

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Compounds related to Myokymia according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1retigabine44 2810.9KCNQ3, KCNQ2
2linopirdine44 2810.9KCNQ3, KCNQ2
3meclofenamic acid44 1110.8KCNQ2, KCNQ3
4alpha-dendrotoxin289.8KCNA1, KCNA6
5pip2289.8KCNQ3, KCNQ2
6nifedipine44 28 50 1112.6KCNA1, KCNA5
7diclofenac44 28 50 1112.6KCNQ3, KCNQ2
8amitriptyline44 28 50 1112.4KCNQ2, KCNA1, KCND3
9tetraethylammonium44 28 1111.1KCNA6, KCNQ2, KCNQ3, KCNA1
10acetylcholine44 50 28 24 1112.9CACNA1A, KCNQ3, KCNQ2
114-aminopyridine44 289.8CACNA1A, KCND3, KCNA5
12sodium44 249.6CACNA1A, KCNQ3, KCNQ2
13shk-dap22618.0KCND3, KCNA1, KCNQ3, KCNQ2, KCNA5, KCNA6
14xe 991 dihydrochloride618.0KCNA6, KCNA5, KCNQ2, KCNQ3, KCND3, KCNA1
15e-4031 dihydrochloride618.0KCND3, KCNA1, KCNQ3, KCNQ2, KCNA5, KCNA6
16jnj 303618.0KCND3, KCNA1, KCNQ3, KCNQ2, KCNA5, KCNA6
17ica 110381618.0KCND3, KCNA1, KCNQ3, KCNQ2, KCNA5, KCNA6
18calcium44 50 24 1110.8KCNA5, KCNA1, KCND3, ADCY5, CACNA1A
19potassium44 24 119.1KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1, KCND3

GO Terms for genes affiliated with Myokymia

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Cellular components related to Myokymia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:0431949.7KCNQ3, KCNQ2
2node of RanvierGO:0332689.6KCNQ2, KCNQ3
3neuronal cell bodyGO:0430258.7CACNA1A, KCND3, KCNA1
4dendriteGO:0304258.4CACNA1A, KCND3, KCNA1
5voltage-gated potassium channel complexGO:0080767.8KCND3, KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1
6plasma membraneGO:0058866.6KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1, KCND3

Biological processes related to Myokymia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1membrane hyperpolarizationGO:0600819.6KCNQ3, KCNA5
2potassium ion exportGO:0714359.4KCND3, KCNA5
3transmission of nerve impulseGO:0192269.3KCNQ2, CACNA1A
4energy reserve metabolic processGO:0061129.3CACNA1A, ADCY5
5neuromuscular process controlling balanceGO:0508859.2CACNA1A, ADCY5
6regulation of insulin secretionGO:0507968.8CACNA1A, KCNA5
7protein homooligomerizationGO:0512608.6KCNA6, KCNA5, KCNA1, KCND3
8potassium ion transportGO:0068137.9KCNA6, KCNA5, KCNQ2, KCNQ3, KCNA1, KCND3
9synaptic transmissionGO:0072686.3CACNA1A, ATXN3, KCNA6, KCNA5, KCNQ2, KCNQ3

Molecular functions related to Myokymia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activityGO:0052499.2KCNQ3, KCNQ2, KCNA6
2potassium channel activityGO:0052679.1KCNQ2, KCNQ3, KCNA1
3delayed rectifier potassium channel activityGO:0052517.6KCND3, KCNA1, KCNQ3, KCNQ2, KCNA5, KCNA6

Products for genes affiliated with Myokymia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Myokymia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet