EA2
MCID: EPS035
MIFTS: 54

Episodic Ataxia, Type 2 (EA2)

Categories: Genetic diseases, Rare diseases, Neuronal 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 73
Apca 57 53 75
Capa 57 53 75
Ea2 57 53 75
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 57 75
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 57 53
Cerebellopathy, Hereditary Paroxysmal 57 53
Episodic Ataxia with Nystagmus 53 75
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 75
Hereditary Paroxysmal Cerebellopathy 75
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 75
Ea-2 75

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
most common episodic ataxia syndrome
onset usually in childhood or adolescence
onset may occur in adulthood
incomplete penetrance
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


HPO:

32
episodic ataxia, type 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:

Orphanet: 59  
Rare neurological diseases


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: 97Disease definitionEpisodic 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, tinnitus and vertigo. 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs 4-Aminopyridine and Potassium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and heart, and related phenotypes are nystagmus and diplopia

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 : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
myotonia
vertigo
interictal downbeat nystagmus
ataxia, episodic
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

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 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
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 behavioral abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0000708
8 dystonia 59 32 Frequent (79-30%) HP:0001332
9 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
10 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
11 tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0000360
12 hemiplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002301
13 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
14 cerebellar vermis atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0006855
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

UMLS symptoms related to Episodic Ataxia, Type 2:


ataxia, tinnitus, vertigo, weakness

MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CACNA1A CACNB4 KCNA1 KCNMA1

Drugs & Therapeutics for Episodic Ataxia, Type 2

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 2 504-24-5 1727
2 Potassium Channel Blockers Phase 2
3
Nicotine Approved Not Applicable 54-11-5 942 89594
4
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
5 tannic acid Approved, Nutraceutical Not Applicable
6 Epoetin alfa 113427-24-0
7 Hematinics
8 Natriuretic Agents
9 Natriuretic Peptide, Brain
10 Anesthetics
11 Liver Extracts
12 Anticoagulants Not Applicable
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
14 Platelet Aggregation Inhibitors Not Applicable
15
Coumarin Experimental, Nutraceutical Not Applicable 91-64-5 323

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Visual Acuity After the Combined Binocular Implantation of +2.0 Diopters and +3.0 Diopters Oculentis Multifocal Intraocular Lenses. Completed NCT02633228 Phase 4
2 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
3 Moderate Whole Body Hyperthermia for Patients Undergoing Re-irradiation for Head and Neck Cancer -Influence on the Tumor Microenvironment Recruiting NCT03547388 Phase 1
4 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044 Not Applicable
5 Respiratory Physiology in Children With Febrile Seizures. Unknown status NCT01906619
6 Urine VEGF Levels in Very Low Birth Weight (VLBW) Infants Unknown status NCT00799721
7 Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality Completed NCT02380729
8 Hormonal Regulation of Body Weight Maintenance Completed NCT00850629 Not Applicable
9 Plasma B-Type Natriuretic Peptide Concentrations in Preterm Infants < 28 Weeks Completed NCT00528736
10 Urine NT-proBNP Levels and Echocardiographic Findings in Very Low Birth Weight (VLBW) Infants Completed NCT00799123
11 Electroacupuncture for Acute Pancreatitis Recruiting NCT03173222 Not Applicable
12 Clinical, Biochemical and Haemodynamic Effects of Large-volume Paracentesis (LVP) in Inflammatory Situations Recruiting NCT02799160
13 Retrospective Evaluation of POCD Data of Studies From KAI, Charité - Universitätsmedizin Berlin Recruiting NCT02832193
14 Berlin Atrial Fibrillation Registry Active, not recruiting NCT02306824
15 HEart and BRain Interfaces in Acute Ischemic Stroke Active, not recruiting NCT02142413
16 Intensified Secondary Prevention Intending a Reduction of Recurrent Events in TIA and Minor Stroke Patients Active, not recruiting NCT01586702 Not Applicable
17 Impact of Standardized MONitoring for Detection of Atrial Fibrillation in Ischemic Stroke Active, not recruiting NCT02204267 Not Applicable
18 Stroke complicAtions After TraUmatic expeRieNces and Stress Not yet recruiting NCT03496480
19 Nasal HFOV Versus Nasal CPAP to Reduce Post-extubation pCO2 Terminated NCT02340299 Not Applicable

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
Brain, Liver, Heart, Endothelial, Eye

Publications for Episodic Ataxia, Type 2

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 72)
# Title Authors Year
1
A Novel CACNA1A Nonsense Variant [c.4054C&amp;gt;T (p.Arg1352<sup>a88</sup>)] Causing Episodic Ataxia Type 2. ( 29713557 )
2018
2
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. ( 29497979 )
2018
3
Episodic ataxia type 2 characterized by recurrent dizziness/vertigo: a report of four cases. ( 29883219 )
2018
4
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
5
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
6
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
7
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
8
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
9
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
10
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
11
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
12
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
13
Pearls &amp;amp; Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
14
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. ( 24420976 )
2014
15
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. ( 24658662 )
2014
16
The first knockin mouse model of episodic ataxia type 2. ( 25109669 )
2014
17
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2. ( 24768804 )
2014
18
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2. ( 23548943 )
2013
19
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. ( 23183922 )
2013
20
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. ( 23344743 )
2013
21
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. ( 24665320 )
2013
22
New mutation of CACNA1A gene in episodic ataxia type 2. ( 21696515 )
2011
23
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. ( 21927611 )
2011
24
N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2. ( 19903821 )
2010
25
Phenotypic variability of episodic ataxia type 2 mutations: a family study. ( 20639635 )
2010
26
The dynamic regulation of cortical excitability is altered in episodic ataxia type 2. ( 21126994 )
2010
27
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. ( 19624685 )
2010
28
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. ( 20129625 )
2010
29
Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q. ( 20663518 )
2010
30
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. ( 18602318 )
2009
31
Late-onset episodic ataxia type 2 associated with a novel loss-of- function mutation in the CACNA1A gene. ( 19232643 )
2009
32
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood. ( 19864665 )
2009
33
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. ( 19486177 )
2009
34
Large CACNA1A deletion in a family with episodic ataxia type 2. ( 18541804 )
2008
35
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). ( 18718348 )
2008
36
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. ( 18606230 )
2008
37
Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report. ( 18442126 )
2008
38
Axonal function in a family with episodic ataxia type 2 due to a novel mutation. ( 18338196 )
2008
39
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels. ( 17654512 )
2008
40
Episodic ataxia type 2. ( 17395137 )
2007
41
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. ( 16306128 )
2006
42
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. ( 20396531 )
2006
43
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. ( 16186543 )
2005
44
Internuclear ophthalmoparesis in episodic ataxia type 2. ( 15827025 )
2005
45
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. ( 15710862 )
2005
46
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. ( 15699392 )
2005
47
Deficits in ocular and manual tracking due to episodic ataxia type 2. ( 15254935 )
2004
48
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. ( 15300451 )
2004
49
Novel splice site CACNA1A mutation causing episodic ataxia type 2. ( 14530926 )
2004
50
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. ( 15136697 )
2004

Variations for Episodic Ataxia, Type 2

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

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Thr666Met 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.Phe1403Cys VAR_043832 rs121908227
7 CACNA1A p.Gly1482Arg VAR_043834 rs121908232
8 CACNA1A p.Phe1490Ser VAR_043835 rs121908233
9 CACNA1A p.Val1493Ile VAR_043836 rs121908234
10 CACNA1A p.Arg1661His VAR_043837 rs121908216
11 CACNA1A p.His1736Leu VAR_043840 rs121908229
12 CACNA1A p.Glu1756Lys VAR_043841 rs121908226
13 CACNA1A p.Arg2135Cys VAR_043842 rs121908235
14 CACNA1A p.Tyr248Cys VAR_063683 rs121908238
15 CACNA1A p.Leu389Phe VAR_063684 rs121908239
16 CACNA1A p.Thr501Met VAR_063687 rs121908240
17 CACNA1A p.Gly638Asp VAR_063688 rs121908246
18 CACNA1A p.Met798Thr VAR_063689 rs121908241
19 CACNA1A p.Pro897Arg VAR_063690 rs121908242
20 CACNA1A p.Arg1679Cys VAR_063692 rs121908243
21 CACNA1A p.Cys1869Arg VAR_063693 rs121908244
22 CACNA1A p.Glu388Lys VAR_067342

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

6
(show top 50) (show all 349)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh37 Chromosome 19, 13414691: 13414691
2 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh38 Chromosome 19, 13303877: 13303877
3 CACNA1A NM_001127221.1(CACNA1A): c.3797delC (p.Pro1266Leufs) deletion Pathogenic rs587776692 GRCh38 Chromosome 19, 13283295: 13283295
4 CACNA1A NM_001127221.1(CACNA1A): c.3797delC (p.Pro1266Leufs) deletion Pathogenic rs587776692 GRCh37 Chromosome 19, 13394109: 13394109
5 CACNA1A NM_001127221.1(CACNA1A): c.3992+1G> A single nucleotide variant Pathogenic rs587776693 GRCh38 Chromosome 19, 13275849: 13275849
6 CACNA1A NM_001127221.1(CACNA1A): c.3992+1G> A single nucleotide variant Pathogenic rs587776693 GRCh37 Chromosome 19, 13386663: 13386663
7 CACNA1A NM_001127222.1(CACNA1A): c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) NT expansion Pathogenic rs193922932 GRCh37 Chromosome 19, 13318673: 13318675
8 CACNA1A NM_001127222.1(CACNA1A): c.6937_6939CAG(6_17) (p.Gln2319_Gln2325del) NT expansion Pathogenic rs193922932 GRCh38 Chromosome 19, 13207859: 13207861
9 CACNA1A NM_001127221.1(CACNA1A): c.4982G> A (p.Arg1661His) single nucleotide variant Likely pathogenic rs121908216 GRCh37 Chromosome 19, 13346516: 13346516
10 CACNA1A NM_001127221.1(CACNA1A): c.4982G> A (p.Arg1661His) single nucleotide variant Likely pathogenic rs121908216 GRCh38 Chromosome 19, 13235702: 13235702
11 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh37 Chromosome 19, 13470521: 13470521
12 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh38 Chromosome 19, 13359707: 13359707
13 CACNA1A NM_001127221.1(CACNA1A): c.4469T> C (p.Phe1490Ser) single nucleotide variant Pathogenic rs121908233 GRCh37 Chromosome 19, 13368288: 13368288
14 CACNA1A NM_001127221.1(CACNA1A): c.4469T> C (p.Phe1490Ser) single nucleotide variant Pathogenic rs121908233 GRCh38 Chromosome 19, 13257474: 13257474
15 CACNA1A NM_001127221.1(CACNA1A): c.5266G> A (p.Glu1756Lys) single nucleotide variant Pathogenic rs121908226 GRCh37 Chromosome 19, 13342661: 13342661
16 CACNA1A NM_001127221.1(CACNA1A): c.5266G> A (p.Glu1756Lys) single nucleotide variant Pathogenic rs121908226 GRCh38 Chromosome 19, 13231847: 13231847
17 CACNA1A NM_001127221.1(CACNA1A): c.2816dupG (p.Ser940Glnfs) duplication Pathogenic rs587776694 GRCh38 Chromosome 19, 13298820: 13298820
18 CACNA1A NM_001127221.1(CACNA1A): c.2816dupG (p.Ser940Glnfs) duplication Pathogenic rs587776694 GRCh37 Chromosome 19, 13409634: 13409634
19 CACNA1A NM_001127221.1(CACNA1A): c.4845delG (p.Val1617Serfs) deletion Pathogenic rs587776695 GRCh38 Chromosome 19, 13253015: 13253015
20 CACNA1A NM_001127221.1(CACNA1A): c.4845delG (p.Val1617Serfs) deletion Pathogenic rs587776695 GRCh37 Chromosome 19, 13363829: 13363829
21 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh37 Chromosome 19, 13476262: 13476262
22 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh38 Chromosome 19, 13365448: 13365448
23 CACNA1A NM_001127221.1(CACNA1A): c.3832C> T (p.Arg1278Ter) single nucleotide variant Pathogenic rs121909323 GRCh37 Chromosome 19, 13387936: 13387936
24 CACNA1A NM_001127221.1(CACNA1A): c.3832C> T (p.Arg1278Ter) single nucleotide variant Pathogenic rs121909323 GRCh38 Chromosome 19, 13277122: 13277122
25 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic rs121909324 GRCh37 Chromosome 19, 13366031: 13366031
26 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic rs121909324 GRCh38 Chromosome 19, 13255217: 13255217
27 CACNA1A NM_001127221.1(CACNA1A): c.4208T> G (p.Phe1403Cys) single nucleotide variant Pathogenic rs121908227 GRCh37 Chromosome 19, 13372309: 13372309
28 CACNA1A NM_001127221.1(CACNA1A): c.4208T> G (p.Phe1403Cys) single nucleotide variant Pathogenic rs121908227 GRCh38 Chromosome 19, 13261495: 13261495
29 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
30 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
31 CACNA1A NM_001127221.1(CACNA1A): c.860G> A (p.Cys287Tyr) single nucleotide variant Pathogenic rs121908236 GRCh37 Chromosome 19, 13470538: 13470538
32 CACNA1A NM_001127221.1(CACNA1A): c.860G> A (p.Cys287Tyr) single nucleotide variant Pathogenic rs121908236 GRCh38 Chromosome 19, 13359724: 13359724
33 CACNA1A NC_000019.10: g.13204242_13243808del39567 deletion Pathogenic GRCh38 Chromosome 19, 13204242: 13243808
34 CACNA1A NG_011569.1: g.(5530_139682)_(139773_151661)del deletion Pathogenic GRCh38 Chromosome 19, 13359800: 13505931
35 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)del deletion Pathogenic GRCh38 Chromosome 19, 13335910: 13371687
36 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)del deletion Pathogenic GRCh37 Chromosome 19, 13446724: 13482501
37 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)dup duplication Pathogenic GRCh38 Chromosome 19, 13335910: 13371687
38 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)dup duplication Pathogenic GRCh37 Chromosome 19, 13446724: 13482501
39 CACNA1A NC_000019.10: g.(13255260_13259564)_(13259701_?)del deletion Pathogenic GRCh38 Chromosome 19, 13255260: 13259701
40 CACNA1A NG_011569.1: g.(210912_224495)_(286794_296852)del deletion Pathogenic GRCh38 Chromosome 19, 13214609: 13300549
41 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
42 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
43 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
44 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
45 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908247 GRCh37 Chromosome 19, 13346507: 13346507
46 CACNA1A NM_001127221.1(CACNA1A): c.4991G> A (p.Arg1664Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908247 GRCh38 Chromosome 19, 13235693: 13235693
47 CACNA1A NM_001127221.1(CACNA1A): c.757C> T (p.His253Tyr) single nucleotide variant Likely pathogenic rs121908228 GRCh37 Chromosome 19, 13476158: 13476158
48 CACNA1A NM_001127221.1(CACNA1A): c.757C> T (p.His253Tyr) single nucleotide variant Likely pathogenic rs121908228 GRCh38 Chromosome 19, 13365344: 13365344
49 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh37 Chromosome 19, 13366032: 13366032
50 CACNA1A NM_001127221.1(CACNA1A): c.4635C> T (p.Thr1545=) single nucleotide variant Benign/Likely benign rs150378053 GRCh38 Chromosome 19, 13255218: 13255218

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 CACNA1A CACNB4 KCNA1 KCNMA1
2 11.49 CACNA1A CACNB4 KCNA1
3 11.02 CACNA1A CACNB4
4 10.85 CACNA1A CACNB4

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 voltage-gated potassium channel complex GO:0008076 8.96 KCNA1 KCNMA1
2 voltage-gated calcium channel complex GO:0005891 8.62 CACNA1A CACNB4

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.54 CACNA1A CACNB4 KCNA1
2 ion transport GO:0006811 9.46 CACNA1A CACNB4 KCNA1 KCNMA1
3 neuromuscular process GO:0050905 9.32 CACNA1A KCNA1
4 membrane depolarization GO:0051899 9.26 CACNA1A CACNB4
5 regulation of membrane potential GO:0042391 9.13 CACNA1A KCNA1 KCNMA1
6 regulation of ion transmembrane transport GO:0034765 8.92 CACNA1A CACNB4 KCNA1 KCNMA1

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.4 CACNA1A CACNB4
2 potassium channel activity GO:0005267 9.37 KCNA1 KCNMA1
3 ion channel activity GO:0005216 9.33 CACNA1A KCNA1 KCNMA1
4 voltage-gated potassium channel activity GO:0005249 9.32 KCNA1 KCNMA1
5 voltage-gated calcium channel activity GO:0005245 9.26 CACNA1A CACNB4
6 high voltage-gated calcium channel activity GO:0008331 8.96 CACNA1A CACNB4
7 voltage-gated ion channel activity GO:0005244 8.8 CACNA1A KCNA1 KCNMA1

Sources for Episodic Ataxia, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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