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EA2
MCID: EPS035
MIFTS: 57

Episodic Ataxia, Type 2 (EA2)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Episodic Ataxia, Type 2

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MalaCards integrated aliases for Episodic Ataxia, Type 2:

Name: Episodic Ataxia, Type 2 58 13 56
Episodic Ataxia Type 2 12 25 54 60 30 6 15 74
Apca 58 54 76
Capa 58 54 76
Ea2 58 54 76
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 58 76
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 58 54
Cerebellopathy, Hereditary Paroxysmal 58 54
Episodic Ataxia with Nystagmus 54 76
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Apca 58
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia 54
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; Capa 58
Acetazolamide-Responsive Episodic Ataxia Syndrome 54
Episodic Ataxia, Nystagmus-Associated 58
Nystagmus-Associated Episodic Ataxia 54
Episodic Ataxia Nystagmus-Associated 76
Hereditary Paroxysmal Cerebellopathy 76
Ataxia, Episodic, with Nystagmus 58
Ataxia, Familial, Paroxysmal 54
Ataxia, Familial Paroxysmal 58
Familial Paroxysmal Ataxia 60
Ataxia, Episodic, Type 2 41
Episodic Ataxia 2 76
Ea-2 76

Characteristics:

Orphanet epidemiological data:

60
familial paroxysmal ataxia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
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:

33
episodic ataxia, type 2:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Penetrance is estimated at 80%-90% [jen et al 1999, spacey et al 2005]...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases


Sources

Summaries for Episodic Ataxia, Type 2

About this section
NIH Rare Diseases : 54 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, 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 4-Aminopyridine and Potassium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and endothelial, 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 : 58 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 : 76 Episodic ataxia 2: An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.

GeneReviews: NBK1501
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Related Diseases for Episodic Ataxia, Type 2

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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

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia 31.0 KCNA1 CACNB4 CACNA1A
2 spinocerebellar ataxia 6 30.3 KCNA1 CACNA1A
3 epilepsy 29.6 KCNMA1 CACNB4 CACNA1A
4 familial hemiplegic migraine 11.1
5 pneumonia 10.2
6 autosomal dominant cerebellar ataxia 10.2
7 cervix carcinoma 10.2
8 episodic ataxia, type 7 10.1 KCNA1 CACNA1A
9 subacute delirium 10.1
10 leishmaniasis 10.1
11 ataxia and polyneuropathy, adult-onset 10.1
12 dystonia 10.1
13 hemiplegic migraine 10.1
14 distal trisomy 20q 10.1
15 bowenoid papulosis 10.1
16 spinocerebellar ataxia 27 10.1 KCNA1 CACNA1A
17 hereditary ataxia 10.0 KCNA1 CACNA1A
18 schizophrenia 9.9
19 diarrhea 9.9
20 migraine with brainstem aura 9.9
21 supranuclear ocular palsy 9.9
22 spinocerebellar atrophy 9.9
23 paroxysmal nonkinesigenic dyskinesia 1 9.9
24 headache 9.9 CACNB4 CACNA1A
25 episodic kinesigenic dyskinesia 1 9.9 PNKD KCNA1
26 epilepsy, idiopathic generalized 9.8 KCNA1 CACNB4 CACNA1A
27 epilepsy, idiopathic generalized 10 9.7 KCNA1 CACNB4
28 episodic ataxia, type 1 9.4 PNKD KCNA1 CACNB4 CACNA1A

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



Diseases related to Episodic Ataxia, Type 2
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Symptoms & Phenotypes for Episodic Ataxia, Type 2

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Human phenotypes related to Episodic Ataxia, Type 2:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
4 diplopia 60 33 frequent (33%) Frequent (79-30%) HP:0000651
5 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
6 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
7 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
8 tinnitus 60 33 frequent (33%) Frequent (79-30%) HP:0000360
9 hemiplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002301
10 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
11 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
12 torticollis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000473
13 cerebellar vermis atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0006855
14 dystonia 60 33 Frequent (79-30%) HP:0001332
15 muscle weakness 33 HP:0001324
16 myotonia 33 HP:0002486
17 paresthesia 33 HP:0003401
18 progressive cerebellar ataxia 33 HP:0002073
19 saccadic smooth pursuit 33 HP:0001152
20 vestibular dysfunction 33 HP:0001751
21 episodic ataxia 33 HP:0002131
22 gaze-evoked nystagmus 33 HP:0000640
23 downbeat nystagmus 33 HP:0010545

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Episodic Ataxia, Type 2:


ataxia, vertigo, tinnitus, weakness

MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:

47
# 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
Sources

Drugs & Therapeutics for Episodic Ataxia, Type 2

About this section

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

(show all 21)
# 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 Misonidazole Investigational Phase 1 13551-87-6
4 Antiparasitic Agents Phase 1
5 Antiprotozoal Agents Phase 1
6 Anti-Infective Agents Phase 1
7
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
8
tannic acid Approved Not Applicable 1401-55-4
9
Nicotine Approved Not Applicable 54-11-5 942 89594
10
Coumarin Experimental Not Applicable 91-64-5 323
11 Epoetin alfa 113427-24-0
12 Hematinics
13 Nutrients
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Not Applicable
15 Anticoagulants Not Applicable
16 Platelet Aggregation Inhibitors Not Applicable
17 Natriuretic Peptide, Brain
18 Natriuretic Agents
19 Liver Extracts
20 Central Nervous System Depressants
21 Anesthetics

Interventional clinical trials:

(show all 21)
# 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 Electroacupuncture for Acute Pancreatitis Recruiting NCT03173222 Not Applicable
8 Breech External Cephalic Version Intervention Trial Recruiting NCT03827226
9 Nutritional Status and Nutrient Supply in Hospitalised Surgical Patients Completed NCT03787537
10 Stroke complicAtions After TraUmatic expeRieNces and Stress Recruiting NCT03496480
11 Clinical, Biochemical and Haemodynamic Effects of Large-volume Paracentesis (LVP) in Inflammatory Situations Recruiting NCT02799160
12 Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality Completed NCT02380729
13 Nasal HFOV Versus Nasal CPAP to Reduce Post-extubation pCO2 Terminated NCT02340299 Not Applicable
14 Berlin Atrial Fibrillation Registry Active, not recruiting NCT02306824
15 HEart and BRain Interfaces in Acute Ischemic Stroke Completed NCT02142413
16 Intensified Secondary Prevention Intending a Reduction of Recurrent Events in TIA and Minor Stroke Patients Active, not recruiting NCT01586702 Not Applicable
17 Hormonal Regulation of Body Weight Maintenance Completed NCT00850629 Not Applicable
18 Plasma B-Type Natriuretic Peptide Concentrations in Preterm Infants < 28 Weeks Completed NCT00528736
19 Urine NT-proBNP Levels and Echocardiographic Findings in Very Low Birth Weight (VLBW) Infants Completed NCT00799123
20 Impact of Standardized MONitoring for Detection of Atrial Fibrillation in Ischemic Stroke Active, not recruiting NCT02204267 Not Applicable
21 Retrospective Evaluation of POCD Data of Studies From KAI, Charité - Universitätsmedizin Berlin Recruiting NCT02832193

Search NIH Clinical Center for Episodic Ataxia, Type 2

Sources

Genetic Tests for Episodic Ataxia, Type 2

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Genetic tests related to Episodic Ataxia, Type 2:

# Genetic test Affiliating Genes
1 Episodic Ataxia Type 2 30 CACNA1A
Sources

Anatomical Context for Episodic Ataxia, Type 2

About this section

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

42
Brain, Heart, Endothelial, Eye
Sources

Publications for Episodic Ataxia, Type 2

About this section

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 77)
# Title Authors Year
1
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. ( 30881862 )
2019
2
A Novel CACNA1A Nonsense Variant [c.4054C&amp;gt;T (p.Arg1352<sup>a88</sup>)] Causing Episodic Ataxia Type 2. ( 29713557 )
2018
3
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. ( 29497979 )
2018
4
Episodic ataxia type 2 characterized by recurrent dizziness/vertigo: a report of four cases. ( 29883219 )
2018
5
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. ( 30279196 )
2018
6
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
7
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
8
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
9
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
10
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
11
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
12
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
13
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
14
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
15
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
16
Pearls &amp;amp; Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
17
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. ( 24420976 )
2014
18
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. ( 24658662 )
2014
19
The first knockin mouse model of episodic ataxia type 2. ( 25109669 )
2014
20
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2. ( 24768804 )
2014
21
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2. ( 23548943 )
2013
22
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. ( 23183922 )
2013
23
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. ( 23344743 )
2013
24
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. ( 24665320 )
2013
25
New mutation of CACNA1A gene in episodic ataxia type 2. ( 21696515 )
2011
26
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. ( 21927611 )
2011
27
N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2. ( 19903821 )
2010
28
Phenotypic variability of episodic ataxia type 2 mutations: a family study. ( 20639635 )
2010
29
KCa channels as therapeutic targets in episodic ataxia type-2. ( 20505091 )
2010
30
The dynamic regulation of cortical excitability is altered in episodic ataxia type 2. ( 21126994 )
2010
31
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. ( 19624685 )
2010
32
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. ( 20129625 )
2010
33
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
34
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. ( 18602318 )
2009
35
Late-onset episodic ataxia type 2 associated with a novel loss-of- function mutation in the CACNA1A gene. ( 19232643 )
2009
36
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood. ( 19864665 )
2009
37
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. ( 19486177 )
2009
38
Large CACNA1A deletion in a family with episodic ataxia type 2. ( 18541804 )
2008
39
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). ( 18718348 )
2008
40
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. ( 18606230 )
2008
41
Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report. ( 18442126 )
2008
42
Axonal function in a family with episodic ataxia type 2 due to a novel mutation. ( 18338196 )
2008
43
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels. ( 17654512 )
2008
44
Episodic ataxia type 2. ( 17395137 )
2007
45
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. ( 16306128 )
2006
46
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. ( 20396531 )
2006
47
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. ( 16186543 )
2005
48
Internuclear ophthalmoparesis in episodic ataxia type 2. ( 15827025 )
2005
49
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. ( 15710862 )
2005
50
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. ( 15699392 )
2005
Sources

Variations for Episodic Ataxia, Type 2

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

76 (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

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

6 (show top 50) (show all 573)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A GRCh38/hg38 19p13.13(chr19: 13408530-13493692)x1 copy number loss Pathogenic GRCh38 Chromosome 19, 13408530: 13493692
2 CACNA1A NM_001174080.1(CACNA1A): c.2868delT (p.Arg957Aspfs) deletion Pathogenic rs786200962 GRCh38 Chromosome 19, 13298768: 13298768
3 CACNA1A NM_001174080.1(CACNA1A): c.2868delT (p.Arg957Aspfs) deletion Pathogenic rs786200962 GRCh37 Chromosome 19, 13409582: 13409582
4 CACNA1A GRCh38/hg38 19p13.13(chr19: 13408530-13493692)x1 copy number loss Pathogenic NCBI36 Chromosome 19, 13380344: 13465506
5 CACNA1A NM_001127221.1(CACNA1A): c.3043G> A (p.Glu1015Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs16024 GRCh37 Chromosome 19, 13409407: 13409407
6 CACNA1A NM_001127221.1(CACNA1A): c.3043G> A (p.Glu1015Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs16024 GRCh38 Chromosome 19, 13298593: 13298593
7 CACNA1A NM_001127221.1(CACNA1A): c.3607_3609delAAG (p.Lys1203del) deletion Benign rs772989979 GRCh37 Chromosome 19, 13395968: 13395970
8 CACNA1A NM_001127221.1(CACNA1A): c.3607_3609delAAG (p.Lys1203del) deletion Benign rs772989979 GRCh38 Chromosome 19, 13285154: 13285156
9 CACNA1A NM_001127221.1(CACNA1A): c.3618_3620delGGA (p.Glu1207del) deletion Uncertain significance rs750826355 GRCh37 Chromosome 19, 13395957: 13395959
10 CACNA1A NM_001127221.1(CACNA1A): c.3618_3620delGGA (p.Glu1207del) deletion Uncertain significance rs750826355 GRCh38 Chromosome 19, 13285143: 13285145
11 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh38 Chromosome 19, 13359680: 13359680
12 CACNA1A NM_001127221.1(CACNA1A): c.904G> A (p.Asp302Asn) single nucleotide variant Likely pathogenic rs863224852 GRCh37 Chromosome 19, 13470494: 13470494
13 CACNA1A NM_001127221.1(CACNA1A): c.1575T> A (p.Ile525=) single nucleotide variant Benign/Likely benign rs16010 GRCh37 Chromosome 19, 13423579: 13423579
14 CACNA1A NM_001127221.1(CACNA1A): c.1575T> A (p.Ile525=) single nucleotide variant Benign/Likely benign rs16010 GRCh38 Chromosome 19, 13312765: 13312765
15 CACNA1A NM_001127221.1(CACNA1A): c.5655C> T (p.Val1885=) single nucleotide variant Conflicting interpretations of pathogenicity rs17846921 GRCh37 Chromosome 19, 13335560: 13335560
16 CACNA1A NM_001127221.1(CACNA1A): c.5655C> T (p.Val1885=) single nucleotide variant Conflicting interpretations of pathogenicity rs17846921 GRCh38 Chromosome 19, 13224746: 13224746
17 CACNA1A NM_001127221.1(CACNA1A): c.1398G> A (p.Ser466=) single nucleotide variant Conflicting interpretations of pathogenicity rs374307014 GRCh37 Chromosome 19, 13428086: 13428086
18 CACNA1A NM_001127221.1(CACNA1A): c.1398G> A (p.Ser466=) single nucleotide variant Conflicting interpretations of pathogenicity rs374307014 GRCh38 Chromosome 19, 13317272: 13317272
19 CACNA1A NM_001127221.1(CACNA1A): c.6467G> T (p.Arg2156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572722130 GRCh37 Chromosome 19, 13320188: 13320188
20 CACNA1A NM_001127221.1(CACNA1A): c.6467G> T (p.Arg2156Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs572722130 GRCh38 Chromosome 19, 13209374: 13209374
21 CACNA1A NM_001127221.1(CACNA1A): c.6657_6659delCCA (p.His2220del) deletion Benign/Likely benign rs759331923 GRCh37 Chromosome 19, 13319694: 13319696
22 CACNA1A NM_001127221.1(CACNA1A): c.5397G> A (p.Ser1799=) single nucleotide variant Likely benign rs201681631 GRCh37 Chromosome 19, 13342530: 13342530
23 CACNA1A NM_001127221.1(CACNA1A): c.5397G> A (p.Ser1799=) single nucleotide variant Likely benign rs201681631 GRCh38 Chromosome 19, 13231716: 13231716
24 CACNA1A NM_001127221.1(CACNA1A): c.3169C> T (p.Arg1057Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs187393245 GRCh37 Chromosome 19, 13397704: 13397704
25 CACNA1A NM_001127221.1(CACNA1A): c.3169C> T (p.Arg1057Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs187393245 GRCh38 Chromosome 19, 13286890: 13286890
26 CACNA1A NM_001127221.1(CACNA1A): c.1617C> T (p.Tyr539=) single nucleotide variant Benign/Likely benign rs182505786 GRCh38 Chromosome 19, 13312723: 13312723
27 CACNA1A NM_001127221.1(CACNA1A): c.1617C> T (p.Tyr539=) single nucleotide variant Benign/Likely benign rs182505786 GRCh37 Chromosome 19, 13423537: 13423537
28 CACNA1A NM_001127221.1(CACNA1A): c.297C> T (p.Pro99=) single nucleotide variant Likely benign rs370211834 GRCh37 Chromosome 19, 13566023: 13566023
29 CACNA1A NM_001127221.1(CACNA1A): c.297C> T (p.Pro99=) single nucleotide variant Likely benign rs370211834 GRCh38 Chromosome 19, 13455209: 13455209
30 CACNA1A NM_001127221.1(CACNA1A): c.6662C> A (p.Pro2221His) single nucleotide variant Uncertain significance rs16052 GRCh37 Chromosome 19, 13319691: 13319691
31 CACNA1A NM_001127221.1(CACNA1A): c.6662C> A (p.Pro2221His) single nucleotide variant Uncertain significance rs16052 GRCh38 Chromosome 19, 13208877: 13208877
32 CACNA1A NM_001127221.1(CACNA1A): c.3414del (p.Lys1139Argfs) deletion Pathogenic rs746790849 GRCh38 Chromosome 19, 13286645: 13286645
33 CACNA1A NM_001127221.1(CACNA1A): c.3414del (p.Lys1139Argfs) deletion Pathogenic rs746790849 GRCh37 Chromosome 19, 13397459: 13397459
34 CACNA1A NM_001127221.1(CACNA1A): c.1482_1483del (p.Ser495Phefs) deletion Pathogenic rs1555762869 GRCh37 Chromosome 19, 13428001: 13428002
35 CACNA1A NM_001127221.1(CACNA1A): c.1482_1483del (p.Ser495Phefs) deletion Pathogenic rs1555762869 GRCh38 Chromosome 19, 13317187: 13317188
36 CACNA1A NM_001127221.1(CACNA1A): c.2890A> C (p.Arg964=) single nucleotide variant Likely benign rs1555755942 GRCh37 Chromosome 19, 13409560: 13409560
37 CACNA1A NM_001127221.1(CACNA1A): c.2889C> T (p.Arg963=) single nucleotide variant Uncertain significance rs1443085599 GRCh37 Chromosome 19, 13409561: 13409561
38 CACNA1A NM_001127221.1(CACNA1A): c.2889C> T (p.Arg963=) single nucleotide variant Uncertain significance rs1443085599 GRCh38 Chromosome 19, 13298747: 13298747
39 CACNA1A NM_001127221.1(CACNA1A): c.2028C> T (p.Asp676=) single nucleotide variant Likely benign rs1170735669 GRCh37 Chromosome 19, 13414660: 13414660
40 CACNA1A NM_001127221.1(CACNA1A): c.2028C> T (p.Asp676=) single nucleotide variant Likely benign rs1170735669 GRCh38 Chromosome 19, 13303846: 13303846
41 CACNA1A NM_001127221.1(CACNA1A): c.1704G> A (p.Trp568Ter) single nucleotide variant Pathogenic rs1555759066 GRCh37 Chromosome 19, 13419310: 13419310
42 CACNA1A NM_001127221.1(CACNA1A): c.1704G> A (p.Trp568Ter) single nucleotide variant Pathogenic rs1555759066 GRCh38 Chromosome 19, 13308496: 13308496
43 CACNA1A NM_001127221.1(CACNA1A): c.1442delG (p.Arg481Profs) deletion Pathogenic rs1555762908 GRCh37 Chromosome 19, 13428042: 13428042
44 CACNA1A NM_001127221.1(CACNA1A): c.1442delG (p.Arg481Profs) deletion Pathogenic rs1555762908 GRCh38 Chromosome 19, 13317228: 13317228
45 CACNA1A NM_001127221.1(CACNA1A): c.745A> G (p.Met249Val) single nucleotide variant Uncertain significance rs1005732031 GRCh37 Chromosome 19, 13476170: 13476170
46 CACNA1A NM_001127221.1(CACNA1A): c.745A> G (p.Met249Val) single nucleotide variant Uncertain significance rs1005732031 GRCh38 Chromosome 19, 13365356: 13365356
47 CACNA1A NM_001127221.1(CACNA1A): c.688G> A (p.Gly230Ser) single nucleotide variant Uncertain significance rs1555774859 GRCh37 Chromosome 19, 13476227: 13476227
48 CACNA1A NM_001127221.1(CACNA1A): c.688G> A (p.Gly230Ser) single nucleotide variant Uncertain significance rs1555774859 GRCh38 Chromosome 19, 13365413: 13365413
49 CACNA1A NM_001127221.1(CACNA1A): c.549G> T (p.Ala183=) single nucleotide variant Likely benign rs16004 GRCh37 Chromosome 19, 13482584: 13482584
50 CACNA1A NM_001127221.1(CACNA1A): c.549G> T (p.Ala183=) single nucleotide variant Likely benign rs16004 GRCh38 Chromosome 19, 13371770: 13371770
Sources

Expression for Episodic Ataxia, Type 2

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

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

# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 67
Show member pathways
 12.21 CACNA1A CACNB4 KCNA1 KCNC2 KCNMA1
2
Potassium Channels 67
Show member pathways
 11.5 KCNA1 KCNC2 KCNMA1
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 65
11.28 CACNA1A CACNB4 KCNA1 KCNC2
4
Celecoxib Pathway, Pharmacodynamics 62
11.09 CACNA1A CACNB4
5
Netrin Signaling 65
10.95 CACNA1A CACNB4
Sources

GO Terms for Episodic Ataxia, Type 2

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

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

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

Sources for Episodic Ataxia, Type 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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