EA
MCID: EPS003
MIFTS: 51

Episodic Ataxia (EA) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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Summaries for Episodic Ataxia

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NINDS:43 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 continuous muscle fiber activity syndrome, 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 skin, brain and testes, and related mouse phenotypes are hearing/vestibular/ear and muscle.

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.

NIH Rare Diseases:42 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

Wikipedia:65 Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe... more...

Descriptions from OMIM:46 612656,108500,160120

Aliases & Classifications for Episodic Ataxia

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 62UMLS, 48Orphanet, 43NINDS, 44Novoseek, 57SNOMED-CT, 46OMIM, 34MeSH, 26ICD10 via Orphanet
See all sources

Episodic Ataxia, Aliases & Descriptions:

Name: Episodic Ataxia 8 42 21 10 62
Continuous Muscle Fiber Activity Syndrome 42 48 62
Neuromyotonia 42 43 44
Quantal Squander Syndrome 42 48
Acquired Neuromyotonia 48 62
Isaac's Syndrome 42 62
Isaacs Syndrome 8 62
Peripheral Nerve Hyperexcitability 48
 
Isaac's-Merten's Syndrome 42
Episodic Ataxia Syndrome 42
Isaac-Mertens Syndrome 48
Isaacs' Syndrome 43
Isaac Syndrome 48
Ea Syndrome 42
Ea 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
continuous muscle fiber activity syndrome:
Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


External Ids:

Disease Ontology8 DOID:963
MeSH34 D020386
ICD10 via Orphanet26 G71.1

Related Diseases for Episodic Ataxia

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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 8 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 106)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia type 231.4CACNA1A, CACNB4
2episodic ataxia type 131.3CACNA1A, KCNA1
3hemiplegia30.9CACNA1A
4spinocerebellar ataxia type 630.7CACNA1A, KCNA1
5migraine30.6PRRT2, CACNA1A, SLC1A3
6spinocerebellar ataxia30.6CACNA1A, KCNA1
7neuropathy30.4CACNA1A, KCNA1
8mental retardation30.3SLC1A3, CACNA1A
9idiopathic generalized epilepsy30.0CACNA1A, KCNA1
10ataxia11.1
11ocular neuromyotonia10.7
12neuromyotonia and axonal neuropathy, autosomal recessive10.5
13episodic ataxia with nystagmus10.5
14esophagitis10.4
15hemiplegic migraine10.4
16myokymia10.4
17esophageal atresia10.4
18episodic ataxia type 610.4
19episodic ataxia type 510.4
20episodic ataxia, type 310.4
21esophageal atresia/tracheoesophageal fistula10.3
22episodic ataxia, type 710.3
23coccidiosis10.3
24congenital myasthenic syndrome with episodic apnea10.3
25thymoma10.3
26familial hemiplegic migraine10.2
27neuronitis10.2
28episodic ataxia with slurred speech10.2
29episodic ataxia type 410.2
30myasthenia gravis10.2
31tracheoesophageal fistula10.2
32diabetes mellitus10.2
33type 2 diabetes mellitus10.2
34subacute sclerosing panencephalitis10.2
35axonal neuropathy10.2
36dystonia10.2
37headache10.2
38episodic ataxia, type 810.2
39sialadenitis10.1
40endotheliitis10.1
41nasopharyngitis10.1
42epidural abscess10.1
43thyroiditis10.1
44cramp-fasciculation syndrome10.1
45paraneoplastic syndromes10.1
46chronic inflammatory demyelinating polyneuropathy10.1
47stiff-person syndrome10.1
48demyelinating polyneuropathy10.1
49encephalitis10.1
50focal dystonia10.1

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



Diseases related to episodic ataxia

Symptoms for Episodic Ataxia

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Clinical features from OMIM:

612656,108500,160120

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:

32
Skin, Brain, Testes

Animal Models for Episodic Ataxia or affiliated genes

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MGI Mouse Phenotypes related to Episodic Ataxia:

36
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
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. (24200040)
2014
2
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. (24658662)
2014
3
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. (24420976)
2014
4
A novel KCNA1 mutation causing episodic ataxia type I. (24639406)
2014
5
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. (23349320)
2013
6
A novel locus for episodic ataxia:UBR4 the likely candidate. (23982692)
2013
7
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. (23183922)
2013
8
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. (22942164)
2012
9
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. (21282599)
2011
10
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
11
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. (20956790)
2010
12
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (20129625)
2010
13
Phenotypic variability of episodic ataxia type 2 mutations: a family study. (20639635)
2010
14
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. (19624685)
2010
15
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (21106501)
2010
16
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. (20156848)
2010
17
KCa channels as therapeutic targets in episodic ataxia type-2. (20505091)
2010
18
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. (19779067)
2009
19
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. (19586927)
2009
20
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. (19486177)
2009
21
Late onset hereditary episodic ataxia. (19372292)
2009
22
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. (18926884)
2008
23
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. (18606230)
2008
24
Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. (18446307)
2008
25
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). (18718348)
2008
26
Primary episodic ataxias: diagnosis, pathogenesis and treatment. (17575281)
2007
27
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
28
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. (16638506)
2006
29
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. (16186543)
2005
30
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia--a comment. (15900025)
2005
31
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (16116111)
2005
32
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
33
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. (15127317)
2004
34
Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2). (14991363)
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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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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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 Pathway37
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 pathway37
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 ESR260
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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Sources:
44Novoseek, 28IUPHAR, 50PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Episodic Ataxia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1verapamil44 28 50 24 1113.2CACNA1A, CACNB4

GO Terms for genes affiliated with Episodic Ataxia

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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:0058919.2CACNB4, CACNA1A
4neuronal cell bodyGO:0430259.0SLC1A3, CACNA1A, KCNA1
5synapseGO:0452028.8CACNB4, PRRT2
6plasma membraneGO:0058867.6SLC1A3, CACNA1A, CACNB4, PRRT2, KCNA1

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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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