EA
MCID: EPS003
MIFTS: 49

Episodic Ataxia (EA) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Episodic Ataxia

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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: Episodic Ataxia, also known as neuromyotonia, is related to episodic ataxia type 2 and episodic ataxia type 1. 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 brain and testes, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Genetics Home Reference:22 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.

NIH Rare Diseases:44 Episodic ataxia refers toĀ 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 areĀ at least seven types of episodic ataxia, designated type 1 through type 7, which areĀ 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;Ā episodic ataxiaĀ type 2 is the most common form of the condition. last updated: 10/10/2011

Wikipedia:66 Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe... more...

Description from OMIM:48 108500,612656,160120

Aliases & Classifications for Episodic Ataxia

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 48OMIM, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
continuous muscle fiber activity syndrome:
Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

episodic ataxia 9 44 22 11 63
neuromyotonia 44 45 46
continuous muscle fiber activity syndrome 44 50
quantal squander syndrome 44 50
acquired neuromyotonia 50 63
isaacs syndrome 9 63
peripheral nerve hyperexcitability 50
isaac's-merten's syndrome 44
episodic ataxia syndrome 44
isaac-mertens syndrome 50
isaacs' syndrome 45
isaac's syndrome 44
isaac syndrome 50
ea syndrome 44
ea 22


External Ids:

Disease Ontology9 DOID:963
MeSH36 D020386
SNOMED-CT via Orphanet60 80138003
ICD10 via Orphanet27 G71.1

Related Diseases for Episodic Ataxia

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18GeneCards, 19GeneDecks
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Diseases in the Episodic Ataxia Type 1 family:

episodic ataxia Episodic Ataxia Type 2
Episodic Ataxia Type 6 Episodic Ataxia Type 5
Episodic Ataxia, Type 3 Episodic Ataxia, Type 7
Episodic Ataxia Type 4

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia type 231.4CACNA1A, CACNB4
2episodic ataxia type 131.2CACNA1A, KCNA1
3migraine30.7CACNA1A, PRRT2, SLC1A3
4spinocerebellar ataxia type 630.6KCNA1, CACNA1A
5spinocerebellar ataxia30.6KCNA1, CACNA1A
6hemiplegia30.5CACNA1A
7neuropathy30.4KCNA1, CACNA1A
8mental retardation30.2CACNA1A, SLC1A3
9idiopathic generalized epilepsy30.0KCNA1, CACNA1A
10ataxia11.1
11ocular neuromyotonia10.7
12esophagitis10.4
13episodic ataxia with nystagmus10.4
14hemiplegic migraine10.4
15myokymia10.4
16esophageal atresia10.4
17episodic ataxia type 610.4
18episodic ataxia type 510.4
19episodic ataxia, type 310.3
20episodic ataxia, type 710.3
21episodic ataxia type 410.3
22coccidiosis10.3
23neuromyotonia and axonal neuropathy, autosomal recessive10.3
24familial hemiplegic migraine10.2
25episodic ataxia with slurred speech10.2
26thymoma10.2
27congenital myasthenic syndrome with episodic apnea10.2
28tracheoesophageal fistula10.2
29subacute sclerosing panencephalitis10.2
30diabetes mellitus10.2
31type 2 diabetes mellitus10.2
32axonal neuropathy10.2
33myasthenia gravis10.2
34neuronitis10.1
35dystonia10.1
36headache10.1
37sialadenitis10.1
38endotheliitis10.1
39nasopharyngitis10.1
40epidural abscess10.1
41thyroiditis10.1
42cramp-fasciculation syndrome10.1
43paraneoplastic syndromes10.1
44stiff-person syndrome10.1
45demyelinating polyneuropathy10.1
46encephalitis10.1
47focal dystonia10.1
48laryngitis10.1
49polyneuropathy10.1
50chronic inflammatory demyelinating polyneuropathy10.1

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



Diseases related to episodic ataxia

Symptoms for Episodic Ataxia

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48OMIM
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Clinical features from OMIM:

108500,612656,160120

Drugs & Therapeutics for Episodic Ataxia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Episodic Ataxia

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Genetic Tests for Episodic Ataxia

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Anatomical Context for Episodic Ataxia

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34MalaCards
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MalaCards organs/tissues related to Episodic Ataxia:

34
Brain, Testes

Animal Models for Episodic Ataxia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Episodic Ataxia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6KCNA1, SLC1A3, CACNB4
2MP:00053698.6CACNB4, CACNA1A, KCNA1
3MP:00053918.2SLC1A3, KCNA1, CACNB4
4MP:00053868.1SLC1A3, CACNB4, KCNA1, CACNA1A
5MP:00036318.0SLC1A3, CACNA1A, CACNB4, KCNA1

Publications for Episodic Ataxia

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53PubMed
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Articles related to Episodic Ataxia:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. (24200040)
2014
2
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. (24420976)
2014
3
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. (23349320)
2013
4
A novel locus for episodic ataxia:UBR4 the likely candidate. (23982692)
2013
5
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. (23183922)
2013
6
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. (22942164)
2012
7
Episodic ataxias 1 and 2. (21827920)
2012
8
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. (21282599)
2011
9
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
10
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. (20956790)
2010
11
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (20129625)
2010
12
Phenotypic variability of episodic ataxia type 2 mutations: a family study. (20639635)
2010
13
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. (19624685)
2010
14
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (21106501)
2010
15
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. (20156848)
2010
16
KCa channels as therapeutic targets in episodic ataxia type-2. (20505091)
2010
17
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. (19779067)
2009
18
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. (19586927)
2009
19
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. (19486177)
2009
20
Late onset hereditary episodic ataxia. (19372292)
2009
21
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. (18926884)
2008
22
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. (18606230)
2008
23
Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. (18446307)
2008
24
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). (18718348)
2008
25
Primary episodic ataxias: diagnosis, pathogenesis and treatment. (17575281)
2007
26
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
27
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. (16638506)
2006
28
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. (16186543)
2005
29
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia--a comment. (15900025)
2005
30
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (16116111)
2005
31
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
32
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. (15127317)
2004
33
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2). (14991363)
2004
34
Novel splice site CACNA1A mutation causing episodic ataxia type 2. (14530926)
2004
35
A mouse model of episodic ataxia type-1. (12612586)
2003
36
Episodic ataxia type 2: an uncommon inherited CNS channelopathies. (12757085)
2003
37
A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene. (12525875)
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Episodic Ataxia

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Pathways for genes affiliated with Episodic Ataxia

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51PathCards, 31KEGG, 39NCBI BioSystems Database, 13EMD Millipore, 54QIAGEN, 56Reactome, 52PharmGKB, 61Thomson Reuters
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Pathways related to Episodic Ataxia according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Synaptic Vesicle Pathway39
9.5SLC1A3, CACNA1A
29.4CACNA1A, KCNA1
3
Show member pathways
9.2CACNA1A, CACNB4
4
Show member pathways
9.2CACNB4, CACNA1A
5
Show member pathways
9.2CACNA1A, CACNB4
6
Show member pathways
9.2CACNA1A, CACNB4
7
Show member pathways
9.2CACNB4, CACNA1A
8
Show member pathways
MAPK signaling pathway39
9.2CACNB4, CACNA1A
99.2CACNB4, CACNA1A
10
Show member pathways
9.2CACNA1A, CACNB4
119.2CACNB4, CACNA1A
129.2CACNB4, CACNA1A
13
Show member pathways
9.2CACNB4, CACNA1A
14
Show member pathways
Development Ligand independent activation of ESR1 and ESR261
9.2CACNB4, CACNA1A
158.6KCNA1, CACNB4, CACNA1A
16
Show member pathways
8.1KCNA1, CACNB4, CACNA1A, SLC1A3

Compounds for genes affiliated with Episodic Ataxia

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46Novoseek, 30IUPHAR, 52PharmGKB, 25HMDB, 12DrugBank
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Compounds related to Episodic Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1verapamil46 30 52 25 1213.2CACNA1A, CACNB4

GO Terms for genes affiliated with Episodic Ataxia

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17Gene Ontology
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Cellular components related to Episodic Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell projectionGO:0429959.4SLC1A3, CACNA1A
2dendriteGO:0304259.4CACNA1A, KCNA1
3voltage-gated calcium channel complexGO:0058919.2CACNA1A, CACNB4
4neuronal cell bodyGO:0430259.0CACNA1A, SLC1A3, KCNA1
5synapseGO:0452028.8CACNB4, PRRT2
6plasma membraneGO:0058867.6SLC1A3, KCNA1, PRRT2, CACNB4, CACNA1A

Biological processes related to Episodic Ataxia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1neuromuscular process controlling balanceGO:0508859.5SLC1A3, CACNA1A
2gamma-aminobutyric acid secretionGO:0140519.3CACNA1A, CACNB4
3membrane depolarizationGO:0518999.3CACNB4, CACNA1A
4gamma-aminobutyric acid signaling pathwayGO:0072149.2CACNB4, CACNA1A
5synaptic transmission, glutamatergicGO:0352499.1CACNA1A, CACNB4
6adult walking behaviorGO:0076288.9CACNA1A, CACNB4
7synaptic transmissionGO:0072688.2SLC1A3, CACNA1A, CACNB4, KCNA1

Molecular functions related to Episodic Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated calcium channel activityGO:0052459.2CACNA1A, CACNB4
2high voltage-gated calcium channel activityGO:0083318.9CACNA1A, CACNB4

Products for genes affiliated with Episodic Ataxia

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Sources for Episodic Ataxia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet