EA2
MCID: EPS035
MIFTS: 58

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 57 13 55
Episodic Ataxia Type 2 12 24 53 59 29 6 15 72
Apca 57 53 74
Capa 57 53 74
Ea2 57 53 74
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 57 74
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 57 53
Cerebellopathy, Hereditary Paroxysmal 57 53
Episodic Ataxia with Nystagmus 53 74
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Apca 57
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia 53
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; Capa 57
Acetazolamide-Responsive Episodic Ataxia Syndrome 53
Episodic Ataxia, Nystagmus-Associated 57
Nystagmus-Associated Episodic Ataxia 53
Episodic Ataxia Nystagmus-Associated 74
Hereditary Paroxysmal Cerebellopathy 74
Ataxia, Episodic, with Nystagmus 57
Ataxia, Familial, Paroxysmal 53
Ataxia, Familial Paroxysmal 57
Familial Paroxysmal Ataxia 59
Ataxia, Episodic, Type 2 40
Episodic Ataxia 2 74
Ea-2 74

Characteristics:

Orphanet epidemiological data:

59
familial paroxysmal ataxia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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:

32
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: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050990
MeSH 44 D001259
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 73 C1720416
Orphanet 59 ORPHA97
MedGen 42 C1720416
UMLS 72 C1720416

Summaries for Episodic Ataxia, Type 2

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97DefinitionEpisodic 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 episodic ataxia and spinocerebellar ataxia 6, 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 Transmission across Chemical Synapses and Potassium Channels. The drugs Morphine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and eye, 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 : 57 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 : 74 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 61)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia 30.9 KCNA1 CACNB4 CACNA1A
2 spinocerebellar ataxia 6 30.6 KCNA1 CACNA1A
3 headache 29.7 CACNB4 CACNA1A
4 epilepsy 29.5 KCNMA1 CACNB4 CACNA1A
5 familial hemiplegic migraine 11.6
6 ataxia and polyneuropathy, adult-onset 10.9
7 pathologic nystagmus 10.6
8 migraine with or without aura 1 10.5
9 hemiplegic migraine 10.5
10 autosomal dominant cerebellar ataxia 10.4
11 thrombophilia due to thrombin defect 10.4
12 aceruloplasminemia 10.3
13 chagas disease 10.3
14 conduct disorder 10.2
15 substance abuse 10.2
16 dystonia 10.2
17 stroke, ischemic 10.2
18 cervix carcinoma 10.2
19 cerebrovascular disease 10.2
20 myotonia 10.1
21 paresthesia 10.1
22 congenital myasthenic syndrome 10.1
23 episodic ataxia, type 7 10.1 KCNA1 CACNA1A
24 otitis media 10.1
25 polykaryocytosis inducer 10.1
26 ocular motor apraxia 10.1
27 kala-azar 1 10.1
28 malaria 10.1
29 gastroenteritis 10.1
30 tic disorder 10.1
31 subacute delirium 10.1
32 leishmaniasis 10.1
33 chronic pain 10.1
34 migraine, familial hemiplegic, 1 10.1
35 torticollis 10.1
36 hemiplegia 10.1
37 spinocerebellar atrophy 10.1
38 spinocerebellar ataxia 27 10.0 KCNA1 CACNA1A
39 schizophrenia 9.9
40 spinocerebellar ataxia 2 9.9
41 strabismus 9.9
42 anxiety 9.9
43 exanthem 9.9
44 segmental dystonia 9.9
45 cervical dystonia 9.9
46 migraine with aura 9.9
47 diarrhea 9.9
48 cerebellar disease 9.9
49 mechanical strabismus 9.9
50 47,xyy 9.9

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
4 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
5 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
6 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
7 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
8 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
9 hemiplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002301
10 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
11 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
12 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
13 cerebellar vermis atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006855
14 dystonia 59 32 Frequent (79-30%) HP:0001332
15 muscle weakness 32 HP:0001324
16 myotonia 32 HP:0002486
17 paresthesia 32 HP:0003401
18 progressive cerebellar ataxia 32 HP:0002073
19 saccadic smooth pursuit 32 HP:0001152
20 vestibular dysfunction 32 HP:0001751
21 episodic ataxia 32 HP:0002131
22 gaze-evoked nystagmus 32 HP:0000640
23 downbeat nystagmus 32 HP:0010545

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CACNA1A CACNB4 KCNA1 KCNC2 KCNMA1 PNKD
2 muscle MP:0005369 9.35 CACNA1A CACNB4 KCNA1 KCNC2 KCNMA1
3 nervous system MP:0003631 9.1 CACNA1A CACNB4 KCNA1 KCNC2 KCNMA1 PNKD

Drugs & Therapeutics for Episodic Ataxia, Type 2

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 3 57-27-2 5288826
2
Racepinephrine Approved Phase 3 329-65-7 838
3
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
4
Ropivacaine Approved Phase 3 84057-95-4 71273 175805
5 Antiviral Agents Phase 2, Phase 3
6 Anti-Retroviral Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 3
8 Sympathomimetics Phase 3
9 Anesthetics, Local Phase 3
10 Adrenergic Agonists Phase 3
11 Narcotics Phase 3
12 Respiratory System Agents Phase 3
13 Adrenergic beta-Agonists Phase 3
14 Analgesics Phase 3
15 Peripheral Nervous System Agents Phase 3
16 Adrenergic alpha-Agonists Phase 3
17 Epinephryl borate Phase 3
18 Mydriatics Phase 3
19 Central Nervous System Depressants Phase 3
20 Analgesics, Opioid Phase 3
21 Adrenergic Agents Phase 3
22 Anti-Asthmatic Agents Phase 3
23 Anesthetics Phase 3
24 Vasoconstrictor Agents Phase 3
25 Autonomic Agents Phase 3
26 Bronchodilator Agents Phase 3
27
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
28 Potassium Channel Blockers Phase 1, Phase 2
29
Sage Approved
30
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
31
Polyestradiol phosphate Approved 28014-46-2
32
Bupivacaine Approved, Investigational Early Phase 1 2180-92-9, 38396-39-3 2474
33
Altretamine Approved 645-05-6 2123
34
Menotropins Approved 61489-71-2, 9002-68-0 5360545
35
Hydroxychloroquine Approved 118-42-3 3652
36 Deslorelin Investigational, Vet_approved 57773-65-6
37 Hormones
38 insulin
39 Insulin, Globin Zinc
40 Estradiol 3-benzoate
41 Estradiol 17 beta-cypionate
42 Anti-Infective Agents
43 Pharmaceutical Solutions
44 Fertility Agents
45 Antimalarials
46 Antiparasitic Agents
47 Antiprotozoal Agents
48 Antirheumatic Agents

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 Postoperative Pain Management With a Continuous Femoral Nerve Block in Patients With a Tibial Plateau Fracture Completed NCT02168959 Early Phase 1 bupivacaine
8 Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA) Completed NCT02333097
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 Follow-up of Children Born From CAPA-IVM IVF or Natural Conception: a Prospective Cohort Study Recruiting NCT04048486
12 A Novel mHealth Approach to Assess and Manage Palliative Care Needs for Cancer Patients in Kigali Recruiting NCT03367637
13 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
14 A Clinical Study of Electroacupuncture for Abdominal Pain Relief in Patients With Acute Pancreatitis Recruiting NCT03173222
15 m-Palliative Care Link: Improving Symptom Control and Information Exchange Among Specialists and Local Health Workers Treating Late Stage Tanzanian Cancer Patients Recruiting NCT03634696
16 Neural Mechanism of the Effect of Acupuncture on Myocardial Ischemia Recruiting NCT00932139
17 Description of Pneumococcal Community-acquired Pneumonia in General Practice in France Recruiting NCT03322670
18 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 Recruiting NCT03405701
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:

41
Heart, Brain, Eye, Cortex, Testes, Cerebellum

Publications for Episodic Ataxia, Type 2

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 275)
# Title Authors PMID Year
1
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 38 4 8 71
8898206 1996
2
Large CACNA1A deletion in a family with episodic ataxia type 2. 9 38 8 71
18541804 2008
3
Identification of CACNA1A large deletions in four patients with episodic ataxia. 9 38 4 8
19633872 2010
4
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. 9 38 4 8
16186543 2005
5
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 9 38 4 8
15710862 2005
6
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 9 38 4 71
10987655 1999
7
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 9 38 4 71
9302278 1997
8
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 38 4 8
21734179 2011
9
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 38 4 71
19586927 2009
10
Clinical spectrum of episodic ataxia type 2. 38 4 8
14718690 2004
11
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 38 4 8
14681882 2003
12
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 38 4 71
11723274 2001
13
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 38 4 71
10408533 1999
14
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. 38 4 71
9600739 1998
15
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 4 71
20050888 2010
16
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. 9 38 71
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. 9 38 71
11179022 2001
18
Progressive ataxia due to a missense mutation in a calcium-channel gene. 4 71
9345107 1997
19
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. 4 8
7757080 1995
20
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. 4 8
1575453 1992
21
Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features. 4 8
2006014 1991
22
Magnetic resonance imaging in familial paroxysmal ataxia. 4 8
3358708 1988
23
Autosomal dominant episodic ataxia: a heterogeneous syndrome. 4 8
3504247 1986
24
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 38 8
27250579 2016
25
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 9 38 4
20156848 2010
26
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 9 38 4
20129625 2010
27
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. 9 38 4
15699392 2005
28
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. 38 8
15136697 2004
29
Novel splice site CACNA1A mutation causing episodic ataxia type 2. 9 38 4
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. 9 38 4
12707077 2003
31
Episodic Ataxia Type 2 38 71
20301674 2003
32
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 9 38 4
12420090 2002
33
Missense CACNA1A mutation causing episodic ataxia type 2. 9 38 4
11176968 2001
34
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 9 38 4
10371528 1999
35
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. 9 38 4
9915947 1999
36
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). 38 8
9390841 1997
37
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. 38 4
24658662 2014
38
Consensus paper: management of degenerative cerebellar disorders. 38 4
24222635 2014
39
CaV2.1 channelopathies. 38 4
20204399 2010
40
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. 71
18056581 2007
41
Primary episodic ataxias: diagnosis, pathogenesis and treatment. 8
17575281 2007
42
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. 38 4
16583725 2006
43
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. 38 4
16043807 2005
44
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. 71
15985579 2005
45
Nonconsensus intronic mutations cause episodic ataxia. 38 4
15622542 2005
46
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 38 4
15293273 2004
47
A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family. 38 4
12736095 2003
48
Hereditary Ataxia Overview 71
20301317 1998
49
Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations. 38 4
9371902 1997
50
Calcium channels in neurological disease. 38 4
9307247 1997

Variations for Episodic Ataxia, Type 2

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

6 (show top 50) (show all 380)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1A NM_001127221.1(CACNA1A): c.3414del (p.Lys1139fs) deletion Pathogenic rs746790849 19:13397459-13397459 19:13286645-13286645
2 CACNA1A NM_001127221.1(CACNA1A): c.1482_1483del (p.Ser495fs) deletion Pathogenic rs1555762869 19:13428001-13428002 19:13317187-13317188
3 CACNA1A NM_001127221.1(CACNA1A): c.2907_2932del (p.Pro970fs) deletion Pathogenic rs1555755909 19:13409518-13409543 19:13298704-13298729
4 CACNA1A NM_001127221.1(CACNA1A): c.1704G> A (p.Trp568Ter) single nucleotide variant Pathogenic rs1555759066 19:13419310-13419310 19:13308496-13308496
5 CACNA1A NM_001127221.1(CACNA1A): c.5559_5560del (p.Tyr1853_Ser1854delinsTer) deletion Pathogenic 19:13339581-13339582 19:13228767-13228768
6 CACNA1A NM_001127221.1(CACNA1A): c.3695+1G> T single nucleotide variant Pathogenic 19:13395881-13395881 19:13285067-13285067
7 CACNA1A NM_001127221.1(CACNA1A): c.4294C> T (p.Arg1432Ter) single nucleotide variant Pathogenic 19:13370475-13370475 19:13259661-13259661
8 CACNA1A NM_001127221.1(CACNA1A): c.6205C> T (p.Arg2069Ter) single nucleotide variant Pathogenic 19:13323018-13323018 19:13212204-13212204
9 CACNA1A NM_001127221.1(CACNA1A): c.4054C> T (p.Arg1352Ter) single nucleotide variant Pathogenic 19:13373586-13373586 19:13262772-13262772
10 CACNA1A NM_001127221.1(CACNA1A): c.4036C> T (p.Arg1346Ter) single nucleotide variant Pathogenic 19:13373604-13373604 19:13262790-13262790
11 CACNA1A NM_001127221.1(CACNA1A): c.2807_2817dup (p.Ser940fs) duplication Pathogenic 19:13409633-13409643 19:13298820-13298830
12 CACNA1A NC_000019.9: g.(?_13386644)_(13387962_?)del deletion Pathogenic 19:13386644-13387962 19:13275830-13277148
13 CACNA1A NM_001127221.1(CACNA1A): c.3846C> G (p.Tyr1282Ter) single nucleotide variant Pathogenic 19:13387922-13387922 19:13277108-13277108
14 CACNA1A NM_001127221.1(CACNA1A): c.2025C> A (p.Tyr675Ter) single nucleotide variant Pathogenic 19:13414663-13414663 19:13303849-13303849
15 CACNA1A NM_001127221.1(CACNA1A): c.2411G> A (p.Trp804Ter) single nucleotide variant Pathogenic 19:13410039-13410039 19:13299225-13299225
16 CACNA1A NM_001127221.1(CACNA1A): c.1247_1248dup (p.Phe417fs) duplication Pathogenic 19:13443689-13443690 19:13332877-13332878
17 CACNA1A NM_001127221.1(CACNA1A): c.1437C> G (p.Tyr479Ter) single nucleotide variant Pathogenic 19:13428047-13428047 19:13317233-13317233
18 CACNA1A NM_001127221.1(CACNA1A): c.3535del (p.Leu1179fs) deletion Pathogenic 19:13397338-13397338 19:13286530-13286530
19 CACNA1A NM_001127221.1(CACNA1A): c.3536del (p.Leu1179fs) deletion Pathogenic 19:13397337-13397337 19:13286523-13286523
20 CACNA1A NM_001127221.1(CACNA1A): c.5059C> T (p.Gln1687Ter) single nucleotide variant Pathogenic 19:13346439-13346439 19:13235625-13235625
21 CACNA1A NM_001127221.1(CACNA1A): c.5118T> G (p.Tyr1706Ter) single nucleotide variant Pathogenic 19:13346041-13346041 19:13235227-13235227
22 CACNA1A NM_001127221.1(CACNA1A): c.5640del (p.Met1881fs) deletion Pathogenic 19:13335575-13335575 19:13224762-13224762
23 CACNA1A NM_001127221.1(CACNA1A): c.1472G> A (p.Trp491Ter) single nucleotide variant Pathogenic 19:13428012-13428012 19:13317198-13317198
24 CACNA1A NC_000019.9: g.(?_13470400)_(13470633_?)del deletion Pathogenic 19:13470400-13470633 19:13359586-13359819
25 CACNA1A NM_001127221.1(CACNA1A): c.1415dup (p.Glu473fs) duplication Pathogenic 19:13428069-13428069 19:13317255-13317255
26 CACNA1A NM_001127221.1(CACNA1A): c.4953+1G> T single nucleotide variant Pathogenic 19:13355995-13355995 19:13245181-13245181
27 CACNA1A NM_001127221.1(CACNA1A): c.*149_*151(21_30) NT expansion Pathogenic 19:13318709-13318711 19:13207895-13207897
28 CACNA1A GRCh38/hg38 19p13.13(chr19: 13408530-13493692)x1 copy number loss Pathogenic 19:13519344-13604506 19:13408530-13493692
29 CACNA1A NM_001127221.1(CACNA1A): c.2868del (p.Arg957fs) deletion Pathogenic rs786200962 19:13409582-13409582 19:13298768-13298768
30 CACNA1A NM_001127221.1(CACNA1A): c.5035C> T (p.Arg1679Cys) single nucleotide variant Pathogenic rs121908243 19:13346463-13346463 19:13235649-13235649
31 CACNA1A NC_000019.10 deletion Pathogenic 19:13317256-13335480 19:13206442-13224666
32 CACNA1A NC_000019.10 deletion Pathogenic 19:13317256-13335480 19:13206442-13224666
33 CACNA1A NC_000019.10 deletion Pathogenic
34 CACNA1A NC_000019.10: g.(13255260_13259564)_(13259701_?)del deletion Pathogenic
35 CACNA1A NC_000019.10 duplication Pathogenic 19:13446724-13482501 19:13335910-13371687
36 CACNA1A NC_000019.10 deletion Pathogenic 19:13446724-13482501 19:13335910-13371687
37 CACNA1A NC_000019.10 deletion Pathogenic
38 CACNA1A nsv1067873 deletion Pathogenic 19:13315086-13354652 19:13204242-13243808
39 CACNA1A NM_001127221.1(CACNA1A): c.860G> A (p.Cys287Tyr) single nucleotide variant Pathogenic rs121908236 19:13470538-13470538 19:13359724-13359724
40 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 19:13346033-13346033 19:13235219-13235219
41 CACNA1A NM_001127221.1(CACNA1A): c.4208T> G (p.Phe1403Cys) single nucleotide variant Pathogenic rs121908227 19:13372309-13372309 19:13261495-13261495
42 CACNA1A NM_001127221.1(CACNA1A): c.3832C> T (p.Arg1278Ter) single nucleotide variant Pathogenic rs121909323 19:13387936-13387936 19:13277122-13277122
43 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 19:13476262-13476262 19:13365448-13365448
44 CACNA1A NM_001127221.1(CACNA1A): c.4845del (p.Val1617fs) deletion Pathogenic rs587776695 19:13363829-13363829 19:13253015-13253015
45 CACNA1A NM_001127221.1(CACNA1A): c.2816dup (p.Ser940fs) duplication Pathogenic rs587776694 19:13409634-13409634 19:13298820-13298820
46 CACNA1A NM_001127221.1(CACNA1A): c.5266G> A (p.Glu1756Lys) single nucleotide variant Pathogenic rs121908226 19:13342661-13342661 19:13231847-13231847
47 CACNA1A NM_001127221.1(CACNA1A): c.4469T> C (p.Phe1490Ser) single nucleotide variant Pathogenic rs121908233 19:13368288-13368288 19:13257474-13257474
48 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 19:13470521-13470521 19:13359707-13359707
49 CACNA1A NM_001127221.1(CACNA1A): c.3992+1G> A single nucleotide variant Pathogenic rs587776693 19:13386663-13386663 19:13275849-13275849
50 CACNA1A NM_001127221.1(CACNA1A): c.3797del (p.Pro1266fs) deletion Pathogenic rs587776692 19:13394109-13394109 19:13283295-13283295

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

74 (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

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 dendrite GO:0030425 9.5 KCNC2 KCNA1 CACNA1A
2 neuronal cell body GO:0043025 9.43 KCNC2 KCNA1 CACNA1A
3 presynaptic membrane GO:0042734 9.37 KCNC2 KCNA1
4 apical plasma membrane GO:0016324 9.33 KCNMA1 KCNC2 KCNA1
5 voltage-gated calcium channel complex GO:0005891 8.96 CACNB4 CACNA1A
6 voltage-gated potassium channel complex GO:0008076 8.8 KCNMA1 KCNC2 KCNA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 KCNMA1 KCNC2 KCNA1 CACNA1A
2 chemical synaptic transmission GO:0007268 9.67 KCNA1 CACNB4 CACNA1A
3 potassium ion transport GO:0006813 9.58 KCNMA1 KCNC2 KCNA1
4 potassium ion transmembrane transport GO:0071805 9.54 KCNMA1 KCNC2 KCNA1
5 regulation of insulin secretion GO:0050796 9.51 KCNC2 CACNA1A
6 regulation of membrane potential GO:0042391 9.5 KCNMA1 KCNA1 CACNA1A
7 neuromuscular process GO:0050905 9.48 KCNA1 CACNA1A
8 membrane depolarization GO:0051899 9.46 CACNB4 CACNA1A
9 ion transport GO:0006811 9.35 KCNMA1 KCNC2 KCNA1 CACNB4 CACNA1A
10 positive regulation of voltage-gated potassium channel activity GO:1903818 9.26 KCNC2 KCNA1
11 regulation of presynaptic membrane potential GO:0099505 9.16 KCNC2 KCNA1
12 regulation of ion transmembrane transport GO:0034765 9.02 KCNMA1 KCNC2 KCNA1 CACNB4 CACNA1A

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 9.54 KCNMA1 KCNA1 CACNA1A
2 calcium channel activity GO:0005262 9.46 CACNB4 CACNA1A
3 voltage-gated calcium channel activity GO:0005245 9.43 CACNB4 CACNA1A
4 potassium channel activity GO:0005267 9.43 KCNMA1 KCNC2 KCNA1
5 delayed rectifier potassium channel activity GO:0005251 9.4 KCNC2 KCNA1
6 voltage-gated potassium channel activity GO:0005249 9.33 KCNMA1 KCNC2 KCNA1
7 high voltage-gated calcium channel activity GO:0008331 9.32 CACNB4 CACNA1A
8 voltage-gated ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 8.96 KCNC2 KCNA1
9 voltage-gated ion channel activity GO:0005244 8.92 KCNMA1 KCNC2 KCNA1 CACNA1A

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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46 MGI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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