MCID: EPS003
MIFTS: 45

Episodic Ataxia malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases, Reproductive diseases categories

Summaries for Episodic Ataxia

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NINDS:42 Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Issacs' syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40. There are hereditary and acquired (occurring from unknown causes) forms of the disorder. The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.

MalaCards based summary: Episodic Ataxia, also known as neuromyotonia, is related to episodic ataxia, type 2 and episodic ataxia/myokymia syndrome. An important gene associated with Episodic Ataxia is CACNA1A (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit), and among its related pathways are Synaptic vesicle cycle and Synaptic transmission ion currents. The compound verapamil have been mentioned in the context of this disorder. Affiliated tissues include testis, skin and brain, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:9 A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement.

NIH Rare Diseases:41 Episodic ataxia refers to a group of related conditions that affect the nervous system and cause problems with movement. it is characterized by episodes of poor coordination and balance (ataxia). during these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood, with the frequency of attacks ranging from several per day to one or two per year.there are at least seven types of episodic ataxia, designated type 1 through type 7, which are distinguished by their signs and symptoms, age of onset, length of attacks, and, when known, genetic cause. only types 1 and 2 have been identified in more than one family; episodic ataxia type 2 is the most common form of the condition. last updated: 10/10/2011

Genetics Home Reference:21 Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.

Wikipedia:63 Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe... more...

Aliases & Classifications for Episodic Ataxia

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 60UMLS, 47Orphanet, 42NINDS, 43Novoseek, 33MeSH, 55SNOMED-CT, 26ICD10 via Orphanet
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Episodic Ataxia, Aliases & Descriptions:

Name: Episodic Ataxia 9 41 21 11 60
Neuromyotonia 41 42 43
Seminomatous Germ Cell Tumor of the Testis 41 47
Continuous Muscle Fiber Activity Syndrome 41 47
Testicular Seminomatous Germ Cell Tumor 41 47
Quantal Squander Syndrome 41 47
Seminoma of the Testis 41 47
Acquired Neuromyotonia 47 60
Testicular Seminoma 41 47
Isaacs Syndrome 9 60
 
Peripheral Nerve Hyperexcitability 47
Isaac's-Merten's Syndrome 41
Episodic Ataxia Syndrome 41
Isaac-Mertens Syndrome 47
Seminoma of Testis 60
Isaacs' Syndrome 42
Isaac's Syndrome 41
Isaac Syndrome 47
Ea Syndrome 41
Ea 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
seminomatous germ cell tumor of the testis:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: Adult; Age of death: adult,elderly,young Adult
continuous muscle fiber activity syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:963
MeSH33 D020386
Orphanet47 842, 84142
ICD10 via Orphanet26 C62, G71.1

Related Diseases for Episodic Ataxia

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Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 8 Episodic Ataxia, Type 3
Episodic Ataxia, Type 5 Episodic Ataxia, Type 6
Episodic Ataxia, Type 2 Episodic Ataxia, Type 7
Episodic Ataxia Type 4

Diseases related to Episodic Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 162)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia, type 231.4CACNA1A, CACNB4
2episodic ataxia/myokymia syndrome31.1CACNA1A, KCNA1
3hemiplegia30.8CACNA1A
4migraine30.6PRRT2, CACNA1A, SLC1A3
5spinocerebellar ataxia30.6CACNA1A, KCNA1
6neuropathy30.4CACNA1A, KCNA1
7mental retardation30.3SLC1A3, CACNA1A
8spinocerebellar ataxia 630.1CACNA1A, KCNA1
9ataxia11.1
10seminoma10.8
11ocular neuromyotonia10.7
12germinoma10.5
13testicular non seminomatous germ cell tumor10.5
14episodic ataxia, type 610.5
15episodic ataxia, type 510.5
16esophagitis10.4
17cribriform variant testicular seminoma10.4
18tubular variant testicular seminoma10.4
19pseudoglandular variant testicular seminoma10.4
20episodic ataxia, type 310.4
21hemiplegic migraine10.4
22esophageal atresia10.4
23peritoneal mesothelioma10.4
24peritonitis10.4
25malignant peritoneal mesothelioma10.4
26mesothelioma10.4
27episodic ataxia, type 710.4
28episodic ataxia type 410.3
29episodic ataxia with slurred speech10.3
30thymoma10.3
31coccidiosis10.3
32esophageal atresia/tracheoesophageal fistula10.3
33testicular microlithiasis10.3
34gynecomastia10.3
35persistent mullerian duct syndrome10.3
36germ cell cancer10.3
37mediastinitis10.3
38teratoma10.3
39myasthenia gravis10.2
40klinefelter's syndrome10.2
41neuroendocrine carcinoma10.2
42polycythemia10.2
43epididymitis10.2
44episodic ataxia, type 810.2
45familial hemiplegic migraine10.2
46neuronitis10.2
47paroxysmal dystonic choreathetosis with episodic ataxia and spasticity10.2
48tracheoesophageal fistula10.2
49subacute sclerosing panencephalitis10.2
50axonal neuropathy10.2

Graphical network of the top 20 diseases related to Episodic Ataxia:



Diseases related to episodic ataxia

Symptoms for Episodic Ataxia

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Drugs & Therapeutics for Episodic Ataxia

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Drug clinical trials:

Search ClinicalTrials for Episodic Ataxia

Search NIH Clinical Center for Episodic Ataxia

Genetic Tests for Episodic Ataxia

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Anatomical Context for Episodic Ataxia

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MalaCards organs/tissues related to Episodic Ataxia:

31
Testis, Skin, Brain, Testes

Animal Models for Episodic Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Episodic Ataxia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6SLC1A3, CACNB4, KCNA1
2MP:00053698.6CACNA1A, CACNB4, KCNA1
3MP:00053918.2SLC1A3, CACNB4, KCNA1
4MP:00053868.1SLC1A3, CACNA1A, CACNB4, KCNA1
5MP:00036318.0KCNA1, CACNB4, CACNA1A, SLC1A3

Publications for Episodic Ataxia

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Articles related to Episodic Ataxia:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. (25659636)
2015
2
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. (24200040)
2014
3
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. (24658662)
2014
4
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. (24420976)
2014
5
A novel KCNA1 mutation causing episodic ataxia type I. (24639406)
2014
6
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. (23349320)
2013
7
A novel locus for episodic ataxia:UBR4 the likely candidate. (23982692)
2013
8
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. (23183922)
2013
9
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. (22942164)
2012
10
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. (21282599)
2011
11
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. (21307345)
2011
12
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. (20956790)
2010
13
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (20129625)
2010
14
Phenotypic variability of episodic ataxia type 2 mutations: a family study. (20639635)
2010
15
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. (19624685)
2010
16
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (21106501)
2010
17
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. (20156848)
2010
18
KCa channels as therapeutic targets in episodic ataxia type-2. (20505091)
2010
19
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. (19779067)
2009
20
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. (19586927)
2009
21
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. (19486177)
2009
22
Late onset hereditary episodic ataxia. (19372292)
2009
23
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. (18926884)
2008
24
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. (18606230)
2008
25
Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. (18446307)
2008
26
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). (18718348)
2008
27
Primary episodic ataxias: diagnosis, pathogenesis and treatment. (17575281)
2007
28
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. (17156368)
2006
29
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. (16638506)
2006
30
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. (16186543)
2005
31
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia--a comment. (15900025)
2005
32
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (16116111)
2005
33
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
34
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. (15127317)
2004
35
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2). (14991363)
2004
36
A mouse model of episodic ataxia type-1. (12612586)
2003
37
Episodic ataxia type 2: an uncommon inherited CNS channelopathies. (12757085)
2003
38
Neurotological findings in a family with episodic ataxia. (12749331)
2003
39
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. (12799903)
2003
40
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. (12077175)
2002
41
Episodic ataxia type 2]. (15775663)
2001
42
Clinical features of a large Australian pedigree with episodic ataxia type 1. (11746627)
2001
43
Episodic ataxia: a case report and review of literature. (10751820)
2000
44
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. (10408533)
1999
45
Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1). (10383630)
1999
46
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. (9482717)
1998
47
A study of motor performance and motor learning in episodic ataxia. (9243603)
1997
48
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. (9005860)
1997
49
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). (9390841)
1997
50
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (7842011)
1994

Variations for Episodic Ataxia

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Expression for genes affiliated with Episodic Ataxia

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Search GEO for disease gene expression data for Episodic Ataxia.

Pathways for genes affiliated with Episodic Ataxia

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Pathways related to Episodic Ataxia according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Synaptic Vesicle Pathway36
9.5SLC1A3, CACNA1A
2
Show member pathways
9.2CACNA1A, CACNB4
3
Show member pathways
9.2CACNB4, CACNA1A
4
Show member pathways
9.2CACNA1A, CACNB4
5
Show member pathways
9.2CACNA1A, CACNB4
6
Show member pathways
9.2CACNA1A, CACNB4
7
Show member pathways
MAPK signaling pathway36
9.2CACNA1A, CACNB4
89.2CACNA1A, CACNB4
9
Show member pathways
9.2CACNB4, CACNA1A
109.2CACNB4, CACNA1A
119.2CACNA1A, CACNB4
12
Show member pathways
9.2CACNA1A, CACNB4
13
Show member pathways
Development Ligand independent activation of ESR1 and ESR258
9.2CACNA1A, CACNB4
148.6KCNA1, CACNB4, CACNA1A
15
Show member pathways
8.1SLC1A3, CACNA1A, CACNB4, KCNA1

Compounds for genes affiliated with Episodic Ataxia

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Sources:
43Novoseek, 28IUPHAR, 49PharmGKB, 24HMDB, 12DrugBank
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Compounds related to Episodic Ataxia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1verapamil43 28 49 24 1213.2CACNA1A, CACNB4

GO Terms for genes affiliated with Episodic Ataxia

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Cellular components related to Episodic Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:00429959.4SLC1A3, CACNA1A
2dendriteGO:00304259.4CACNA1A, KCNA1
3voltage-gated calcium channel complexGO:00058919.2CACNB4, CACNA1A
4neuronal cell bodyGO:00430259.0SLC1A3, CACNA1A, KCNA1
5synapseGO:00452028.8CACNB4, PRRT2
6plasma membraneGO:00058867.6SLC1A3, CACNA1A, CACNB4, PRRT2, KCNA1

Biological processes related to Episodic Ataxia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular process controlling balanceGO:00508859.5SLC1A3, CACNA1A
2gamma-aminobutyric acid secretionGO:00140519.3CACNA1A, CACNB4
3membrane depolarizationGO:00518999.3CACNB4, CACNA1A
4gamma-aminobutyric acid signaling pathwayGO:00072149.2CACNB4, CACNA1A
5synaptic transmission, glutamatergicGO:00352499.1CACNA1A, CACNB4
6adult walking behaviorGO:00076288.9CACNA1A, CACNB4
7synaptic transmissionGO:00072688.2SLC1A3, CACNA1A, CACNB4, KCNA1

Molecular functions related to Episodic Ataxia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel activityGO:00052459.2CACNA1A, CACNB4
2high voltage-gated calcium channel activityGO:00083318.9CACNA1A, CACNB4

Products for genes affiliated with Episodic Ataxia

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Sources for Episodic Ataxia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet