EA2
MCID: EPS035
MIFTS: 63

Episodic Ataxia, Type 2 (EA2)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 2

MalaCards integrated aliases for Episodic Ataxia, Type 2:

Name: Episodic Ataxia, Type 2 56 13 54
Episodic Ataxia Type 2 12 24 52 58 29 6 15 71
Apca 56 52 73
Capa 56 52 73
Ea2 56 52 73
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 56 73
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 56 52
Cerebellopathy, Hereditary Paroxysmal 56 52
Episodic Ataxia with Nystagmus 52 73
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Apca 56
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia 52
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; Capa 56
Acetazolamide-Responsive Episodic Ataxia Syndrome 52
Episodic Ataxia, Nystagmus-Associated 56
Nystagmus-Associated Episodic Ataxia 52
Episodic Ataxia Nystagmus-Associated 73
Hereditary Paroxysmal Cerebellopathy 73
Ataxia, Episodic, with Nystagmus 56
Ataxia, Familial, Paroxysmal 52
Ataxia, Familial Paroxysmal 56
Familial Paroxysmal Ataxia 58
Ataxia, Episodic, Type 2 39
Episodic Ataxia 2 73
Ea-2 73

Characteristics:

Orphanet epidemiological data:

58
familial paroxysmal ataxia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Miscellaneous:
incomplete penetrance
most common episodic ataxia syndrome
onset usually in childhood or adolescence
onset may occur in adulthood
progressive ataxia
episodes last from several hours to days
frequency of episodes ranges from several per week to several per year
symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
favorable response of episodic attacks to acetazolamide
phenotypic overlap with fhm1 and sca6

Inheritance:
autosomal dominant


HPO:

31
episodic ataxia, type 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


GeneReviews:

24
Penetrance Penetrance is estimated at 80%-90% [jen et al 1999, spacey et al 2005].

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 2

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. Visit the Orphanet disease page for more resources.

MalaCards based summary : Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine and hemiplegic migraine, and has symptoms including ataxia, vertigo and tinnitus. An important gene associated with Episodic Ataxia, Type 2 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Sweet Taste Signaling and G-Beta Gamma Signaling. The drugs Epinephrine and Morphine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and brain, and related phenotypes are nystagmus and ataxia

Disease Ontology : 12 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has material basis in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.

OMIM : 56 Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). (108500)

UniProtKB/Swiss-Prot : 73 Episodic ataxia 2: An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.

GeneReviews: NBK1501

Related Diseases for Episodic Ataxia, Type 2

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 2 Episodic Ataxia, Type 1
Episodic Ataxia, Type 4 Episodic Ataxia, Type 3
Episodic Ataxia, Type 7 Episodic Ataxia, Type 6
Episodic Ataxia, Type 5 Episodic Ataxia, Type 8
Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 31.6 SCN1A KCNA1 CACNB4 CACNA1S CACNA1B CACNA1A
2 hemiplegic migraine 31.1 SCN1A CACNA1A ATP1A2
3 familial or sporadic hemiplegic migraine 30.2 SCN1A CACNA1A ATP1A2
4 migraine with aura 30.1 SCN1A CACNA1A ATP1A2
5 hemiplegia 30.0 SCN1A PNKD CACNA1A ATP1A2
6 spinocerebellar ataxia 2 29.9 KCNN3 CACNA1A ATXN3
7 dystonia 29.6 PRKCG PNKD CACNA1B CACNA1A ATXN3
8 headache 29.6 SCN1A CACNB4 CACNA1S CACNA1A ATP1A2
9 episodic ataxia, type 1 29.4 PNKD KCNC3 KCNA1 CACNB4 CACNA1A
10 aceruloplasminemia 29.3 SPTBN2 PRKCG KCNC3 KCNA1 CACNA1A ATXN3
11 autosomal dominant cerebellar ataxia 29.2 SPTBN2 PRKCG LOC108663985 KCNC3 KCNA1 CACNA1A
12 cerebellar disease 29.0 SPTBN2 PRKCG KCNC3 CACNA1A ATXN3
13 epilepsy 28.9 SCN1A KCNMA1 KCNA1 CACNB4 CACNA1H CACNA1A
14 migraine with or without aura 1 28.6 SCN1A PNKD KCNA1 CAV2 CACNB4 CACNA1S
15 spinocerebellar ataxia 6 27.9 SCN1A PRKCG KCNA1 CAV2 CACNB4 CACNA1S
16 episodic ataxia 26.8 SPTBN2 SCN1A RNF138 PSMC4 PRKCG PNKD
17 ataxia and polyneuropathy, adult-onset 10.9
18 pathologic nystagmus 10.6
19 thrombophilia due to thrombin defect 10.4
20 hereditary episodic ataxia 10.4 KCNA1 CACNA1A
21 episodic ataxia, type 7 10.4 KCNA1 CACNA1A
22 chagas disease 10.4
23 primary cerebellar degeneration 10.4 CACNA1A ATXN3
24 episodic ataxia, type 5 10.3 CACNB4 CACNA1A ATP1A2
25 hemidystonia 10.3 PNKD CACNA1A
26 paroxysmal dyskinesia 10.3 PNKD KCNMA1
27 multifocal dystonia 10.3 PNKD CACNA1A
28 spinocerebellar ataxia 31 10.3 CACNA1A ATXN3
29 conduct disorder 10.2
30 substance abuse 10.2
31 spinocerebellar ataxia 38 10.2 CACNA1A ATXN3
32 sporadic hemiplegic migraine 10.2 SCN1A CACNA1A ATP1A2
33 neonatal period electroclinical syndrome 10.2 SCN1A KCNA1 CACNA1A
34 reflex epilepsy 10.2 SCN1A PNKD
35 brill-zinsser disease 10.2 SPTBN2 CAV2
36 episodic kinesigenic dyskinesia 1 10.2 PNKD KCNA1 CACNB4
37 hypokalemic periodic paralysis, type 1 10.2 KCNMA1 CACNA1S CACNA1A
38 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A KCNA1
39 pernicious anemia 10.1
40 stroke, ischemic 10.1
41 vitamin b12 deficiency 10.1
42 cervix carcinoma 10.1
43 gastritis 10.1
44 cerebrovascular disease 10.1
45 atrophic gastritis 10.1
46 autoimmune atrophic gastritis 10.1
47 myotonia 10.1
48 paresthesia 10.1
49 congenital myasthenic syndrome 10.1
50 movement disease 10.1 PNKD CACNA1A ATXN3

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 2:



Diseases related to Episodic Ataxia, Type 2

Symptoms & Phenotypes for Episodic Ataxia, Type 2

Human phenotypes related to Episodic Ataxia, Type 2:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
4 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
5 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
8 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
9 hemiplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002301
10 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
11 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
12 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
13 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
14 dystonia 58 31 Frequent (79-30%) HP:0001332
15 muscle weakness 31 HP:0001324
16 myotonia 31 HP:0002486
17 paresthesia 31 HP:0003401
18 progressive cerebellar ataxia 31 HP:0002073
19 saccadic smooth pursuit 31 HP:0001152
20 vestibular dysfunction 31 HP:0001751
21 episodic ataxia 31 HP:0002131
22 gaze-evoked nystagmus 31 HP:0000640
23 downbeat nystagmus 31 HP:0010545

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
myotonia
vertigo
weakness
interictal downbeat nystagmus
more
Head And Neck Ears:
tinnitus

Head And Neck Eyes:
saccadic smooth pursuit
gaze-evoked nystagmus
ictal and interictal diplopia
suppression of vestibuloocular reflex
interictal downbeat nystagmus
more

Clinical features from OMIM:

108500

UMLS symptoms related to Episodic Ataxia, Type 2:


ataxia, vertigo, tinnitus, weakness

GenomeRNAi Phenotypes related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 ATXN3 CACNA1B CACNA1S CACNB4 KCNC3 KCNN3

MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 ATP1A2 ATXN3 CACNA1A CACNA1B CACNA1H CACNA1S
2 growth/size/body region MP:0005378 10.07 ATP1A2 CACNA1A CACNA1B CACNA1H CACNA1S CACNB4
3 nervous system MP:0003631 9.86 ATP1A2 ATXN3 CACNA1A CACNA1B CACNA1H CACNA1S
4 muscle MP:0005369 9.81 ATP1A2 CACNA1A CACNA1H CACNA1S CACNB4 CAV2
5 respiratory system MP:0005388 9.17 ATP1A2 CACNA1A CACNA1H CACNA1S CAV2 KCNN3

Drugs & Therapeutics for Episodic Ataxia, Type 2

Drugs for Episodic Ataxia, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
2
Morphine Approved, Investigational Phase 3 57-27-2 5288826
3
Ropivacaine Approved Phase 3 84057-95-4 71273 175805
4
Racepinephrine Approved Phase 3 329-65-7 838
5 Anti-Retroviral Agents Phase 2, Phase 3
6 Antiviral Agents Phase 2, Phase 3
7 Narcotics Phase 3
8 Anesthetics, Local Phase 3
9 Neurotransmitter Agents Phase 3
10 Sympathomimetics Phase 3
11 Epinephryl borate Phase 3
12 Adrenergic Agonists Phase 3
13 Anti-Asthmatic Agents Phase 3
14 Anesthetics Phase 3
15 Vasoconstrictor Agents Phase 3
16 Analgesics, Opioid Phase 3
17 Adrenergic beta-Agonists Phase 3
18 Respiratory System Agents Phase 3
19 Autonomic Agents Phase 3
20 Analgesics Phase 3
21 Mydriatics Phase 3
22 Bronchodilator Agents Phase 3
23 Central Nervous System Depressants Phase 3
24 Adrenergic Agents Phase 3
25
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
26 Potassium Channel Blockers Phase 1, Phase 2
27
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
28
Sage Approved
29
Polyestradiol phosphate Approved 28014-46-2
30
Bupivacaine Approved, Investigational Early Phase 1 38396-39-3, 2180-92-9 2474
31
Menotropins Approved 9002-68-0, 61489-71-2 5360545
32
Altretamine Approved 645-05-6 2123
33
Hydroxychloroquine Approved 118-42-3 3652
34
Deslorelin Investigational, Vet_approved 57773-65-6
35 Estradiol 17 beta-cypionate
36 Estradiol 3-benzoate
37 Hormones
38 Insulin, Globin Zinc
39 insulin
40 Fertility Agents
41 Anti-Infective Agents
42 Pharmaceutical Solutions
43 Antiparasitic Agents
44 Antiprotozoal Agents
45 Antirheumatic Agents
46 Antimalarials

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Phase 3 Trial of Palliative Care for HIV Patients on Antiretroviral Therapy Completed NCT01608802 Phase 2, Phase 3
2 Procalcitonin and the Inflammatory Response to Salt in Essential Hypertension: a Randomised Cross-over Clinical Trial. Completed NCT01665534 Phase 3
3 Efficacy of Peri-Incisional Multimodal Drug Injection in Reducing Post-Operative Pain Following Lumbar Spine Surgery Recruiting NCT03513445 Phase 3 Morphine;Epinephrine;naropin
4 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
5 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
6 Research Study to Evaluate Capacitation Culture (CAPA) Followed by in Vitro Maturation (IVM) of Human Oocytes: A Randomized Pilot Study Completed NCT03921710 CAPA-IVM;Standard-IVM
7 Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA) Completed NCT02333097
8 Postoperative Pain Management With a Continuous Femoral Nerve Block in Patients With a Tibial Plateau Fracture Completed NCT02168959 Early Phase 1 bupivacaine
9 CAPA-VU Trial Catheter Ablation in Paroxymal Atrial Fibrillation Based on UNIVU Completed NCT03198858
10 Specific Cognitive Remediation for Schizophrenia (RECOS) and Sheltered Employment: a Multicentre Controlled Randomized Trial. Completed NCT01891929
11 The Effectiveness and Safety of in Vitro Maturation of Oocytes Versus in Vitro Fertilization in Women With High Antral Follicle Count (AFC): a Randomised Controlled Trial Completed NCT03405701
12 Follow-up of Children Born From CAPA-IVM IVF or Natural Conception: a Prospective Cohort Study Recruiting NCT04048486
13 A Novel mHealth Approach to Assess and Manage Palliative Care Needs for Cancer Patients in Kigali Recruiting NCT03367637
14 Effect of the CAPA Culture Step on Meiotic and Developmental Competence of Human Oocytes After Using Two (Previously Used) Meiotic Maturation Triggers in a SIBLING Oocyte Study Design Recruiting NCT03915054 AREG-IVM medium;STD medium
15 A Clinical Study of Electroacupuncture for Abdominal Pain Relief in Patients With Acute Pancreatitis Recruiting NCT03173222
16 m-Palliative Care Link: Improving Symptom Control and Information Exchange Among Specialists and Local Health Workers Treating Late Stage Tanzanian Cancer Patients Recruiting NCT03634696
17 Neural Mechanism of the Effect of Acupuncture on Myocardial Ischemia Recruiting NCT00932139
18 Description of Pneumococcal Community-acquired Pneumonia in General Practice in France Recruiting NCT03322670
19 Hydroxychloroquine Exposure in Systemic Lupus Erythematosus (SLE) Recruiting NCT03802188
20 The Efficiency of Home Based Dual Task Training in Parkinson Disease Not yet recruiting NCT03939559

Search NIH Clinical Center for Episodic Ataxia, Type 2

Genetic Tests for Episodic Ataxia, Type 2

Genetic tests related to Episodic Ataxia, Type 2:

# Genetic test Affiliating Genes
1 Episodic Ataxia Type 2 29 CACNA1A

Anatomical Context for Episodic Ataxia, Type 2

MalaCards organs/tissues related to Episodic Ataxia, Type 2:

40
Eye, Heart, Brain, Cortex, Cerebellum, Testes, Cervix

Publications for Episodic Ataxia, Type 2

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 278)
# Title Authors PMID Year
1
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 54 61 24 56 6
9302278 1997
2
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 61 24 56 6
8898206 1996
3
Large CACNA1A deletion in a family with episodic ataxia type 2. 54 61 56 6
18541804 2008
4
Identification of CACNA1A large deletions in four patients with episodic ataxia. 54 61 24 56
19633872 2010
5
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. 54 61 24 56
16186543 2005
6
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 54 61 24 56
15710862 2005
7
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 54 61 24 6
10987655 1999
8
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 61 24 56
21734179 2011
9
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 61 24 6
19586927 2009
10
Clinical spectrum of episodic ataxia type 2. 61 24 56
14718690 2004
11
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 61 24 56
14681882 2003
12
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 61 24 6
11723274 2001
13
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 61 24 6
10408533 1999
14
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. 61 24 6
9600739 1998
15
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 24 6
20050888 2010
16
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. 54 61 6
11370629 2001
17
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. 54 61 6
11179022 2001
18
Progressive ataxia due to a missense mutation in a calcium-channel gene. 24 6
9345107 1997
19
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. 24 56
7757080 1995
20
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. 24 56
1575453 1992
21
Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. 24 56
2006014 1991
22
Magnetic resonance imaging in familial paroxysmal ataxia. 24 56
3358708 1988
23
Autosomal dominant episodic ataxia: a heterogeneous syndrome. 24 56
3504247 1986
24
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 61 56
27250579 2016
25
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 54 61 24
20156848 2010
26
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 54 61 24
20129625 2010
27
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. 54 61 24
15699392 2005
28
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. 61 56
15136697 2004
29
Novel splice site CACNA1A mutation causing episodic ataxia type 2. 54 61 24
14530926 2004
30
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 54 61 24
12707077 2003
31
Episodic Ataxia Type 2 61 6
20301674 2003
32
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 54 61 24
12420090 2002
33
Missense CACNA1A mutation causing episodic ataxia type 2. 54 61 24
11176968 2001
34
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 54 61 24
10371528 1999
35
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. 54 61 24
9915947 1999
36
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). 61 56
9390841 1997
37
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. 61 24
24658662 2014
38
Consensus paper: management of degenerative cerebellar disorders. 61 24
24222635 2014
39
CaV2.1 channelopathies. 61 24
20204399 2010
40
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. 6
18056581 2007
41
Primary episodic ataxias: diagnosis, pathogenesis and treatment. 56
17575281 2007
42
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. 61 24
16583725 2006
43
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 61 24
16043807 2005
44
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 6
15985579 2005
45
Nonconsensus intronic mutations cause episodic ataxia. 61 24
15622542 2005
46
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 61 24
15293273 2004
47
A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family. 61 24
12736095 2003
48
Hereditary Ataxia Overview 6
20301317 1998
49
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. 61 24
9371902 1997
50
Calcium channels in neurological disease. 61 24
9307247 1997

Variations for Episodic Ataxia, Type 2

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

6 (show top 50) (show all 329) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1A NM_001127221.1(CACNA1A):c.1997C>T (p.Thr666Met)SNV Pathogenic 8488 rs121908212 19:13414691-13414691 19:13303877-13303877
2 CACNA1A NM_001127221.1(CACNA1A):c.3414del (p.Lys1139fs)deletion Pathogenic 434556 rs746790849 19:13397459-13397459 19:13286645-13286645
3 CACNA1A NM_001127221.1(CACNA1A):c.1482_1483del (p.Ser495fs)deletion Pathogenic 434558 rs1555762869 19:13428001-13428002 19:13317187-13317188
4 CACNA1A NM_001127221.1(CACNA1A):c.1704G>A (p.Trp568Ter)SNV Pathogenic 476236 rs1555759066 19:13419310-13419310 19:13308496-13308496
5 CACNA1A NM_001127221.1(CACNA1A):c.1442del (p.Arg481fs)deletion Pathogenic 476235 rs1555762908 19:13428042-13428042 19:13317228-13317228
6 CACNA1A NM_001127221.1(CACNA1A):c.2907_2932del (p.Pro970fs)deletion Pathogenic 476244 rs1555755909 19:13409518-13409543 19:13298704-13298729
7 CACNA1A NM_000068.4(CACNA1A):c.2329_2331delinsAC (p.Val777fs)indel Pathogenic 542835 rs1555756461 19:13410128-13410130 19:13299314-13299316
8 CACNA1A NM_001127221.1(CACNA1A):c.2194G>T (p.Glu732Ter)SNV Pathogenic 542827 rs1555756737 19:13411452-13411452 19:13300638-13300638
9 CACNA1A NM_001127221.1(CACNA1A):c.2758G>T (p.Glu920Ter)SNV Pathogenic 542828 rs1555756130 19:13409692-13409692 19:13298878-13298878
10 CACNA1A NM_001127221.1(CACNA1A):c.*149_*151(21_30)NT expansion Pathogenic 562099 19:13318709-13318711 19:13207895-13207897
11 CACNA1A NM_001127221.1(CACNA1A):c.3695+1G>TSNV Pathogenic 562220 rs1315533129 19:13395881-13395881 19:13285067-13285067
12 CACNA1A NM_001127221.1(CACNA1A):c.4294C>T (p.Arg1432Ter)SNV Pathogenic 565995 rs1568470104 19:13370475-13370475 19:13259661-13259661
13 CACNA1A NC_000019.9:g.(?_13470400)_(13470633_?)deldeletion Pathogenic 583770 19:13470400-13470633 19:13359586-13359819
14 CACNA1A NM_001127221.1(CACNA1A):c.6205C>T (p.Arg2069Ter)SNV Pathogenic 583270 rs779221807 19:13323018-13323018 19:13212204-13212204
15 CACNA1A NM_001127221.1(CACNA1A):c.4036C>T (p.Arg1346Ter)SNV Pathogenic 585570 rs1568473233 19:13373604-13373604 19:13262790-13262790
16 CACNA1A NM_000068.4(CACNA1A):c.2816_2826dup (p.Ser943fs)duplication Pathogenic 637965 19:13409632-13409633 19:13298818-13298819
17 CACNA1A NC_000019.9:g.(?_13386644)_(13387962_?)deldeletion Pathogenic 652963 19:13386644-13387962 19:13275830-13277148
18 CACNA1A NM_001127221.1(CACNA1A):c.3581del (p.Pro1194fs)deletion Pathogenic 803531 19:13395996-13395996 19:13285182-13285182
19 CACNA1A NM_001127221.1(CACNA1A):c.2134A>G (p.Ile712Val)SNV Pathogenic 803532 19:13414401-13414401 19:13303587-13303587
20 CACNA1A NM_001127221.1(CACNA1A):c.2025C>A (p.Tyr675Ter)SNV Pathogenic 642562 19:13414663-13414663 19:13303849-13303849
21 CACNA1A NM_001127221.1(CACNA1A):c.2411G>A (p.Trp804Ter)SNV Pathogenic 650983 19:13410039-13410039 19:13299225-13299225
22 CACNA1A NM_001127221.1(CACNA1A):c.592C>T (p.Arg198Ter)SNV Pathogenic 650263 19:13482541-13482541 19:13371727-13371727
23 CACNA1A NM_001127221.1(CACNA1A):c.928_931del (p.Thr310fs)deletion Pathogenic 660404 19:13470467-13470470 19:13359653-13359656
24 CACNA1A NM_001127221.1(CACNA1A):c.1247_1248dup (p.Phe417fs)duplication Pathogenic 648071 19:13443689-13443690 19:13332875-13332876
25 CACNA1A NM_001127221.1(CACNA1A):c.1437C>G (p.Tyr479Ter)SNV Pathogenic 657621 19:13428047-13428047 19:13317233-13317233
26 CACNA1A NM_001127221.1(CACNA1A):c.3535del (p.Leu1179fs)deletion Pathogenic 644525 19:13397338-13397338 19:13286524-13286524
27 CACNA1A NM_001127221.1(CACNA1A):c.3536del (p.Leu1179fs)deletion Pathogenic 659920 19:13397337-13397337 19:13286523-13286523
28 CACNA1A NM_001127221.1(CACNA1A):c.5059C>T (p.Gln1687Ter)SNV Pathogenic 660390 19:13346439-13346439 19:13235625-13235625
29 CACNA1A NM_001127221.1(CACNA1A):c.5118T>G (p.Tyr1706Ter)SNV Pathogenic 645463 19:13346041-13346041 19:13235227-13235227
30 CACNA1A NM_001127221.1(CACNA1A):c.5640del (p.Met1881fs)deletion Pathogenic 655727 19:13335575-13335575 19:13224761-13224761
31 CACNA1A NM_001127221.1(CACNA1A):c.3846C>G (p.Tyr1282Ter)SNV Pathogenic 617754 rs774224202 19:13387922-13387922 19:13277108-13277108
32 CACNA1A NM_001127221.1(CACNA1A):c.4054C>T (p.Arg1352Ter)SNV Pathogenic 585212 rs1568473171 19:13373586-13373586 19:13262772-13262772
33 CACNA1A NM_001127221.1(CACNA1A):c.1472G>A (p.Trp491Ter)SNV Pathogenic 573195 rs1568528144 19:13428012-13428012 19:13317198-13317198
34 CACNA1A NM_001127221.1(CACNA1A):c.1415dup (p.Glu473fs)duplication Pathogenic 580312 rs1568528298 19:13428068-13428069 19:13317254-13317255
35 CACNA1A NM_001127221.1(CACNA1A):c.4953+1G>TSNV Pathogenic 567724 rs1568457080 19:13355995-13355995 19:13245181-13245181
36 CACNA1A NM_001127221.1(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer)deletion Pathogenic 560724 rs1568440440 19:13339581-13339582 19:13228767-13228768
37 CACNA1A NM_001127221.1(CACNA1A):c.2042del (p.Gln681fs)deletion Pathogenic 476239 rs1555757523 19:13414646-13414646 19:13303832-13303832
38 CACNA1A NM_001127221.1(CACNA1A):c.4429C>T (p.Gln1477Ter)SNV Pathogenic 476259 rs1555743942 19:13368328-13368328 19:13257514-13257514
39 CACNA1A NM_001127221.1(CACNA1A):c.1082+1G>ASNV Pathogenic 476232 rs1272886269 19:13446619-13446619 19:13335805-13335805
40 CACNA1A NM_001127221.1(CACNA1A):c.1503_1524del (p.Leu502fs)deletion Pathogenic 446903 rs1555762855 19:13427960-13427981 19:13317146-13317167
41 CACNA1A NM_001127221.1(CACNA1A):c.4046G>A (p.Arg1349Gln)SNV Pathogenic 380972 rs1057520918 19:13373594-13373594 19:13262780-13262780
42 CACNA1A NM_001127221.1(CACNA1A):c.5035C>T (p.Arg1679Cys)SNV Pathogenic 68434 rs121908243 19:13346463-13346463 19:13235649-13235649
43 CACNA1A NC_000019.10:g.(13206442_13207898)_(13214608_13224666)deldeletion Pathogenic 8520 19:13317256-13335480 19:13206442-13224666
44 CACNA1A NC_000019.10:g.(13206442_13207898)_(13214608_13224666)deldeletion Pathogenic 8519 19:13317256-13335480 19:13206442-13224666
45 CACNA1A NC_000019.10:g.(13214609_13224667)_(13286966_13300549)deldeletion Pathogenic 8518 19:13214609-13300549
46 CACNA1A NC_000019.10:g.(13255260_13259564)_(13259701_?)deldeletion Pathogenic 8517 19:13255260-13259701
47 CACNA1A NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dupduplication Pathogenic 8516 19:13446724-13482501 19:13335910-13371687
48 CACNA1A NC_000019.10:g.(13335910_13359606)_(13359799_13371687)deldeletion Pathogenic 8515 19:13446724-13482501 19:13335910-13371687
49 CACNA1A NC_000019.10:g.(13359800_13371688)_(13371779_13505931)deldeletion Pathogenic 8514 19:13359800-13505931
50 CACNA1A nsv1067873deletion Pathogenic 8512 19:13315086-13354652 19:13204242-13243808

UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 2:

73 (show all 22)
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Thr665Met VAR_001492 rs121908212
2 CACNA1A p.His253Tyr VAR_043822 rs121908228
3 CACNA1A p.Cys256Arg VAR_043823 rs121908231
4 CACNA1A p.Cys287Tyr VAR_043824 rs121908236
5 CACNA1A p.Gly293Arg VAR_043825 rs121908215
6 CACNA1A p.Phe1402Cys VAR_043832 rs121908227
7 CACNA1A p.Gly1481Arg VAR_043834 rs121908232
8 CACNA1A p.Phe1489Ser VAR_043835 rs121908233
9 CACNA1A p.Val1492Ile VAR_043836 rs121908234
10 CACNA1A p.Arg1660His VAR_043837 rs121908216
11 CACNA1A p.His1735Leu VAR_043840 rs121908229
12 CACNA1A p.Glu1755Lys VAR_043841 rs121908226
13 CACNA1A p.Arg2134Cys VAR_043842 rs121908235
14 CACNA1A p.Tyr248Cys VAR_063683 rs121908238
15 CACNA1A p.Leu389Phe VAR_063684 rs121908239
16 CACNA1A p.Thr500Met VAR_063687 rs121908240
17 CACNA1A p.Gly637Asp VAR_063688 rs121908246
18 CACNA1A p.Met797Thr VAR_063689 rs121908241
19 CACNA1A p.Pro896Arg VAR_063690 rs121908242
20 CACNA1A p.Arg1678Cys VAR_063692 rs121908243
21 CACNA1A p.Cys1868Arg VAR_063693 rs121908244
22 CACNA1A p.Glu388Lys VAR_067342

Expression for Episodic Ataxia, Type 2

Search GEO for disease gene expression data for Episodic Ataxia, Type 2.

Pathways for Episodic Ataxia, Type 2

Pathways related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
2
Show member pathways
12.89 SCN1A PRKCG CACNB4 CACNA1S CACNA1H CACNA1B
3
Show member pathways
12.85 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
4
Show member pathways
12.82 PRKCG KCNN3 KCNMA1 CACNA1S CACNA1H ATP1A2
5
Show member pathways
12.78 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
6
Show member pathways
12.78 PRKCG KCNN3 KCNMA1 KCNC3 KCNA1 CACNB4
7
Show member pathways
12.77 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
8
Show member pathways
12.71 PSMC4 PRKCG CACNA1S CACNA1B CACNA1A
9
Show member pathways
12.66 SCN1A PRKCG CACNA1S CACNA1H CACNA1B CACNA1A
10 12.64 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
11
Show member pathways
12.59 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
12
Show member pathways
12.47 PRKCG CACNA1S CACNA1B CACNA1A
13
Show member pathways
12.45 KCNMA1 CACNB4 CACNA1S ATP1A2
14
Show member pathways
12.43 PRKCG CACNA1S CACNA1B CACNA1A
15
Show member pathways
12.39 PRKCG KCNMA1 CACNB4 CACNA1S
16
Show member pathways
12.15 PRKCG CACNA1S CACNA1H CACNA1B CACNA1A
17
Show member pathways
12.06 KCNN3 KCNMA1 KCNC3 KCNA1
18
Show member pathways
12.06 PRKCG CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
19
Show member pathways
11.95 CACNA1B CACNA1A ATP1A2
20
Show member pathways
11.92 CACNA1S CACNA1B ATP1A2
21 11.89 PRKCG CACNA1S CACNA1B CACNA1A
22
Show member pathways
11.88 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
23 11.82 PRKCG KCNMA1 ATP1A2
24 11.79 PSMC4 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
25 11.73 CACNB4 CACNA1S ATP1A2
26
Show member pathways
11.66 SCN1A CACNB4 CACNA1S
27 11.66 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
28 11.54 PRKCG KCNN3 CACNA1S CACNA1H
29 11.52 PRKCG KCNC3 KCNA1 CACNB4 CACNA1S CACNA1B
30 11.4 CACNB4 CACNA1S CACNA1B CACNA1A
31 11.28 CACNB4 CACNA1S CACNA1H
32 11.12 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
33 10.71 CACNA1B CACNA1A

GO Terms for Episodic Ataxia, Type 2

Cellular components related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.1 SCN1A PRKCG KCNN3 KCNMA1 KCNC3 KCNA1
2 dendrite GO:0030425 9.77 PRKCG KCNC3 KCNA1 CACNA1B CACNA1A
3 synapse GO:0045202 9.76 PSMC4 PRKCG KCNC3 KCNA1 CACNB4 CACNA1A
4 voltage-gated potassium channel complex GO:0008076 9.61 KCNMA1 KCNC3 KCNA1
5 caveola GO:0005901 9.58 KCNMA1 CAV2 ATP1A2
6 T-tubule GO:0030315 9.5 SCN1A CACNA1S ATP1A2
7 neuronal cell body GO:0043025 9.5 SPTBN2 SCN1A KCNN3 KCNC3 KCNA1 CACNA1B
8 voltage-gated sodium channel complex GO:0001518 9.46 SCN1A CACNA1H
9 voltage-gated calcium channel complex GO:0005891 9.02 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A

Biological processes related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.93 SCN1A KCNMA1 CACNA1H CACNA1A ATP1A2
2 calcium ion transport GO:0006816 9.88 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
3 potassium ion transport GO:0006813 9.85 KCNN3 KCNMA1 KCNC3 KCNA1 ATP1A2
4 chemical synaptic transmission GO:0007268 9.85 PRKCG KCNA1 CACNB4 CACNA1B CACNA1A ATXN3
5 potassium ion transmembrane transport GO:0071805 9.83 KCNN3 KCNMA1 KCNC3 KCNA1 ATP1A2
6 transmembrane transport GO:0055085 9.81 SCN1A PSMC4 KCNMA1 KCNC3 KCNA1 CACNA1S
7 calcium ion transmembrane transport GO:0070588 9.8 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
8 regulation of membrane potential GO:0042391 9.72 SCN1A KCNMA1 KCNA1 CACNA1H CACNA1A
9 neuronal action potential GO:0019228 9.7 SCN1A KCNA1 CACNA1H
10 ion transport GO:0006811 9.7 SCN1A KCNN3 KCNMA1 KCNC3 KCNA1 CACNB4
11 membrane depolarization GO:0051899 9.69 CACNB4 CACNA1B CACNA1A
12 response to pain GO:0048265 9.67 PRKCG CACNA1B CACNA1A
13 regulation of muscle contraction GO:0006937 9.59 KCNA1 ATP1A2
14 membrane depolarization during action potential GO:0086010 9.58 SCN1A CACNA1H
15 response to amyloid-beta GO:1904645 9.58 CACNA1B CACNA1A
16 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.57 SCN1A KCNA1
17 neuromuscular process controlling posture GO:0050884 9.56 SCN1A PNKD
18 calcium ion import GO:0070509 9.56 CACNA1S CACNA1H CACNA1B CACNA1A
19 cellular potassium ion homeostasis GO:0030007 9.55 KCNMA1 ATP1A2
20 regulation of ion transmembrane transport GO:0034765 9.28 SCN1A KCNMA1 KCNC3 KCNA1 CACNB4 CACNA1S

Molecular functions related to Episodic Ataxia, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.73 SCN1A KCNMA1 KCNA1 CACNA1H CACNA1B CACNA1A
2 calcium channel activity GO:0005262 9.72 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
3 potassium channel activity GO:0005267 9.58 KCNMA1 KCNC3 KCNA1
4 voltage-gated calcium channel activity GO:0005245 9.55 CACNB4 CACNA1S CACNA1H CACNA1B CACNA1A
5 voltage-gated potassium channel activity GO:0005249 9.54 KCNMA1 KCNC3 KCNA1
6 calcium-activated potassium channel activity GO:0015269 9.43 KCNN3 KCNMA1
7 high voltage-gated calcium channel activity GO:0008331 9.26 CACNB4 CACNA1S CACNA1B CACNA1A
8 voltage-gated ion channel activity GO:0005244 9.23 SCN1A KCNMA1 KCNC3 KCNA1 CACNA1S CACNA1H

Sources for Episodic Ataxia, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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