EA
MCID: EPS003
MIFTS: 50

Episodic Ataxia (EA) malady

Neuronal category

Summaries for Episodic Ataxia

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 Isaac's syndrome (also known as neuromyotonia, Isaac-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 Isaac's 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 Isaac's syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Isaac's syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.

MalaCards: Episodic Ataxia, also known as isaac's syndrome, is related to episodic ataxia type 1 and episodic ataxia type 2. 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 Adrenoceptors and Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction). The compounds ω-conotoxin mviic and margatoxin have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related mouse phenotypes are muscle and behavior/neurological.

NIH Rare Diseases:43 Isaac's syndrome is a neuromuscular disease caused by continuous signaling of the end regions of peripheral nerve fibers that activate muscle fibers (motor neurons). age of onset is between ages 15 and 60, with most patients experiencing symptoms before age 40. there are hereditary and acquired forms of the disorder. the acquired form may develop in association with peripheral neuropathies or as an autoimmune condition. last updated: 2/11/2010

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

Description from OMIM:47 108500,612656,160120

Aliases & Classifications for Episodic Ataxia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
isaac's syndrome:
Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

episodic ataxia 8 43 21 10 61
isaac's syndrome 43 44 49
neuromyotonia 43 44 45
continuous muscle fiber activity syndrome 43 49
quantal squander syndrome 43 49
acquired neuromyotonia 49 61
isaacs syndrome 8 61
peripheral nerve hyperexcitability 49
isaac's-merten's syndrome 43
episodic ataxia syndrome 43
isaac-mertens syndrome 49
ea syndrome 43
ea 21


External Ids:

Disease Ontology8 DOID:963
MeSH35 D020386
ICD10 via Orphanet26 G71.1

Related Diseases for Episodic Ataxia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the episodic ataxia type 1 family:

episodic ataxia episodic ataxia type 2
episodic ataxia with nystagmus 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 84)
idRelated DiseaseScoreTop Affiliating Genes
1episodic ataxia type 130.8KCNA1, CACNA1A
2episodic ataxia type 230.8CACNB4, CACNA1A
3hemiplegic migraine30.6ATP1A2, CACNA1A
4spinocerebellar ataxia30.6CACNA1A, KCNA1
5familial hemiplegic migraine30.3CACNA1A, ATP1A2
6spinocerebellar ataxia type 629.9CACNA1A, KCNA1
7ataxia11.1
8ocular neuromyotonia10.7
9myokymia10.4
10esophageal atresia10.4
11episodic ataxia type 510.4
12episodic ataxia type 610.3
13episodic ataxia with nystagmus10.3
14episodic ataxia, type 310.3
15episodic ataxia, type 710.3
16episodic ataxia type 410.3
17n syndrome10.3
18thymoma10.3
19neuromyotonia and axonal neuropathy, autosomal recessive10.3
20tracheoesophageal fistula10.2
21subacute sclerosing panencephalitis10.2
22axonal neuropathy10.2
23erythropoietic protoporphyria, autosomal recessive10.1
24esophageal atresia/tracheoesophageal fistula10.1
25hereditary ataxia10.1
26mental retardation10.1
27headache10.1
28sialadenitis10.1
29epidural abscess10.1
30cramp-fasciculation syndrome10.1
31paraneoplastic syndromes10.1
32stiff-person syndrome10.1
33chronic inflammatory demyelinating polyneuropathy10.1
34focal dystonia10.1
35satoyoshi syndrome10.1
36limbic encephalitis10.1
37pseudomyotonia10.1
38somatization disorder10.0
39erythromelalgia10.0
40basilar migraine10.0
41congenital myasthenic syndrome associated with acetylcholine receptor deficiency10.0
42paramyotonia congenita10.0
43myoclonus epilepsy10.0
44dystonia 910.0
45myoclonus10.0
46spinocerebellar atrophy10.0
47paroxysmal dyskinesia10.0
48alternating hemiplegia of childhood10.0ATP1A2
49hemiplegia10.0CACNA1A, ATP1A2
50benign familial infantile epilepsy10.0ATP1A2

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



Diseases related to episodic ataxia

Clinical Features for Episodic Ataxia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

108500,612656,160120

Drugs & Therapeutics for Episodic Ataxia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Episodic Ataxia

Drug clinical trials:

Search ClinicalTrials for Episodic Ataxia

Search NIH Clinical Center for Episodic Ataxia

Search CenterWatch for Episodic Ataxia

Genetic Tests for Episodic Ataxia

Anatomical Context for Episodic Ataxia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Episodic Ataxia:

33
Skin, Brain

Animal Models for Episodic Ataxia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Episodic Ataxia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.6CACNA1A, CACNB4, PDHA1, SCN4A, ATP1A2, KCNA1
2MP:00053868.4SLC1A3, KCNA4, KCNA2, KCNA1, KCNA6, CACNA1A
3MP:00036318.2CACNA1A, KCNA1, KCNA2, KCNA4, CACNA1B, CACNB4

Publications for Episodic Ataxia

Sources:
51PubMed
See all sources

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
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. (24420976)
2014
3
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. (23441182)
2013
4
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2. (23548943)
2013
5
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. (23344743)
2013
6
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. (22942164)
2012
7
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes. (22609616)
2012
8
Sleep benefit in a case of episodic ataxia. (22000943)
2012
9
New mutation of CACNA1A gene in episodic ataxia type 2. (21696515)
2011
10
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. (21927611)
2011
11
News on ion channels: erythromelalgia, treatment of episodic ataxia and faciobrachial dystonic seizures. (21847615)
2011
12
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (20129625)
2010
13
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. (21106501)
2010
14
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. (19586927)
2009
15
Cerebral oedema in episodic ataxia. (19402571)
2009
16
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. (17912752)
2008
17
PET evidence of cerebellar hypometabolism in a patient with familial episodic ataxia-myokymia syndrome. (18546320)
2008
18
Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report. (18442126)
2008
19
Axonal function in a family with episodic ataxia type 2 due to a novel mutation. (18338196)
2008
20
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
21
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. (20396531)
2006
22
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. (16116111)
2005
23
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. (16009908)
2005
24
Internuclear ophthalmoparesis in episodic ataxia type 2. (15827025)
2005
25
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. (15985579)
2005
26
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. (16043807)
2005
27
Novel splice site CACNA1A mutation causing episodic ataxia type 2. (14530926)
2004
28
A novel mutation in KCNA1 causes episodic ataxia without myokymia. (15532032)
2004
29
A mouse model of episodic ataxia type-1. (12612586)
2003
30
A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene. (12525875)
2003
31
Neurotological findings in a family with episodic ataxia. (12749331)
2003
32
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. (12077175)
2002
33
Episodic see-saw nystagmus in spino-cerebellar ataxia type 2 (SCA-2). (12879977)
2002
34
Clinical features of a large Australian pedigree with episodic ataxia type 1. (11746627)
2001
35
Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. (11679591)
2001
36
Similar oculomotor phenotypes in episodic ataxia type 2 and spinocerebellar atrophy type 6. (11710502)
2001
37
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. (11673600)
2001
38
Magnetic resonance spectroscopy of episodic ataxia type 2 and migraine. (10852558)
2000
39
Non familial episodic ataxia possibly associated with the use of nicotine: case report. (11203503)
2000
40
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (10355668)
1999
41
Sporadic acetazolamide-responsive episodic ataxia. (10584694)
1999
42
CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others. (10408526)
1999
43
Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2. (10443893)
1999
44
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. (9482717)
1998
45
Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. (9526001)
1998
46
Three novel KCNA1 mutations in episodic ataxia type I families. (9600245)
1998
47
A study of motor performance and motor learning in episodic ataxia. (9243603)
1997
48
Episodic ataxia results from voltage-dependent potassium channels with altered functions. (8845167)
1995
49
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. (8541859)
1995
50
Autosomal dominant episodic ataxia: a heterogeneous syndrome. (3504247)
1986

Genetic Variations for Episodic Ataxia

Expression for genes affiliated with Episodic Ataxia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Episodic Ataxia

Search GEO for disease gene expression data for Episodic Ataxia.

Pathways for genes affiliated with Episodic Ataxia

Sources:
54Reactome, 50PharmGKB, 12EMD Millipore, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
See all sources

Pathways related to Episodic Ataxia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2CACNA1B, CACNA1A
210.2CACNA1B, CACNA1A
3
Development Ligand-independent activation of ESR1 and ESR2
Hide members
10.2CACNB4, CACNA1B
410.0CACNA1B, CACNA1A, KCNA1
5
Hide members
10.0CACNA1A, CACNA1B, CACNB4
6
Hide members
10.0CACNA1A, CACNA1B, CACNB4
710.0CACNB4, CACNA1B, CACNA1A
810.0CACNA1A, CACNA1B, CACNB4
910.0CACNA1A, CACNA1B, CACNB4
10
Hide members
9.9SLC1A3, ATP1A2, CACNA1B, CACNA1A
11
Hide members
9.9SCN4A, CACNB4, CACNA1B, CACNA1A
129.8CACNA1A, CACNA1B, CACNB4, PSMC4
13
Hide members
9.5KCND3, KCNA4, KCNA2, KCNA1, KCNA6
149.0KCND3, KCNA4, KCNA2, KCNA1, KCNA6, CACNA1A
15
Hide members
8.9SLC1A3, KCND3, KCNA4, KCNA2, KCNA1, KCNA6

Compounds for genes affiliated with Episodic Ataxia

Sources:
29IUPHAR, 60Tocris Bioscience, 11DrugBank, 45Novoseek, 50PharmGKB, 24HMDB
See all sources

Compounds related to Episodic Ataxia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1ω-conotoxin mviic2910.4CACNA1B, CACNA1A
2margatoxin2910.4KCNA1, KCNA2
3(+-)-bay k 86446010.4CACNA1A, CACNA1B
4nnc 55-0396 dihydrochloride6010.3CACNA1A, CACNA1B
5mibefradil dihydrochloride6010.3CACNA1A, CACNA1B
6omega-conotoxin gvia6010.3CACNA1A, CACNA1B
7Dalfampridine 1110.3KCNA1, KCNA4, KCND3
84-aminopyridine45 2911.3KCND3, KCNA4, CACNA1A
9pregabalin60 45 1112.2CACNA1A, CACNA1B
10mibefradil45 29 1112.2CACNA1B, CACNB4, PSMC4
11α-dendrotoxin2910.2KCNA2, KCNA1, KCNA6
12acetazolamide45 1111.2SCN4A, CACNA1A
13tetraethylammonium45 29 1112.1KCNA1, KCNA6, PSMC4
14verapamil45 50 29 11 2413.9CACNB4, CACNA1B, CACNA1A
15nimodipine45 29 1111.9CACNA1B, CACNB4
16xe 991 dihydrochloride609.8KCND3, KCNA4, KCNA2, KCNA1, KCNA6
17e-4031 dihydrochloride609.8KCNA6, KCNA1, KCNA2, KCNA4, KCND3
18jnj 303609.8KCNA6, KCNA1, KCNA2, KCNA4, KCND3
19shk-dap22609.8KCNA6, KCNA1, KCNA2, KCNA4, KCND3
20ica 110381609.8KCNA6, KCNA1, KCNA2, KCNA4, KCND3
21atp45 2910.7CACNA1B, PDHA1, PSMC4, SCN4A, MT-ATP6, SLC1A3
22glutamate459.6SLC1A3, SLC1A4, ATP1A2, CACNA1B, CACNA1A
23sodium45 2410.3KCNA4, CACNA1A, CACNA1B, PSMC4, SCN4A, ATP1A2
24potassium45 11 2411.0ATP1A2, KCND3, KCNA4, KCNA2, KCNA1, KCNA6
25calcium45 50 11 2411.9KCND3, KCNA4, KCNA1, CACNA1A, CACNA1B, CACNB4

GO Terms for genes affiliated with Episodic Ataxia

Sources:
16Gene Ontology
See all sources

Cellular components related to Episodic Ataxia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:04520210.0PRRT2, ATP1A2, CACNB4
2voltage-gated calcium channel complexGO:0058919.9CACNA1A, CACNA1B, CACNB4
3juxtaparanode region of axonGO:0442249.8KCNA1, KCNA2
4dendriteGO:0304259.6KCND3, KCNA1, CACNA1A, CACNA1B, SLC1A4
5voltage-gated potassium channel complexGO:0080769.6KCNA6, KCNA1, KCNA2, KCNA4, KCND3
6neuronal cell bodyGO:0430259.5KCND3, KCNA1, CACNA1A, CACNA1B, SLC1A4, SLC1A3
7plasma membraneGO:0058868.3KCND3, KCNA4, KCNA2, KCNA1, KCNA6, CACNA1A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1gamma-aminobutyric acid signaling pathwayGO:00721410.2CACNB4, CACNA1A
2gamma-aminobutyric acid secretionGO:01405110.1CACNB4, CACNA1A
3membrane depolarizationGO:05189910.1CACNB4, CACNA1B, CACNA1A
4synaptic transmission, glutamatergicGO:0352499.9CACNA1A, CACNB4, SLC1A4
5neurotransmitter uptakeGO:0015049.9SLC1A3, ATP1A2
6protein homooligomerizationGO:0512609.6KCND3, KCNA4, KCNA2, KCNA1, KCNA6
7potassium ion transportGO:0068139.5KCND3, KCNA4, KCNA2, KCNA1, KCNA6, ATP1A2
8synaptic transmissionGO:0072689.0SLC1A3, KCND3, KCNA4, KCNA2, KCNA1, KCNA6

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

idNameGO IDScoreTop Affiliating Genes
1sodium:dicarboxylate symporter activityGO:01715310.1SLC1A3, SLC1A4
2voltage-gated calcium channel activityGO:00524510.0CACNA1A, CACNA1B, CACNB4
3high voltage-gated calcium channel activityGO:0083319.9CACNB4, CACNA1A
4voltage-gated potassium channel activityGO:0052499.7KCNA6, KCNA2, KCNA4
5delayed rectifier potassium channel activityGO:0052519.5KCNA6, KCNA1, KCNA2, KCNA4, KCND3

Products for genes affiliated with Episodic Ataxia

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Sources for Episodic Ataxia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet