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EA2
MCID: EPS035
MIFTS: 51

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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


Sources

Summaries for Episodic Ataxia, Type 2

About this section
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, 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 eye, brain and cervix, 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
Sources

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 24)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia 31.1 KCNA1 CACNB4 CACNA1A
2 spinocerebellar ataxia 6 30.3 KCNA1 CACNA1A
3 autosomal dominant cerebellar ataxia 30.1 KCNA1 CACNA1A
4 epilepsy 29.7 KCNMA1 CACNB4 CACNA1A
5 familial hemiplegic migraine 11.1
6 cervix carcinoma 10.1
7 leishmaniasis 10.1
8 episodic ataxia, type 7 10.1 KCNA1 CACNA1A
9 dystonia 10.1
10 hemiplegic migraine 10.1
11 spinocerebellar ataxia 27 10.0 KCNA1 CACNA1A
12 hereditary ataxia 10.0 KCNA1 CACNA1A
13 headache 10.0 CACNB4 CACNA1A
14 episodic kinesigenic dyskinesia 1 9.9 PNKD KCNA1
15 schizophrenia 9.9
16 ataxia and polyneuropathy, adult-onset 9.9
17 diarrhea 9.9
18 migraine with brainstem aura 9.9
19 supranuclear ocular palsy 9.9
20 spinocerebellar atrophy 9.9
21 epilepsy, idiopathic generalized 10 9.9 KCNA1 CACNB4
22 paroxysmal nonkinesigenic dyskinesia 1 9.9
23 epilepsy, idiopathic generalized 9.9 KCNA1 CACNB4 CACNA1A
24 episodic ataxia, type 1 9.7 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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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, 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
Sources

Drugs & Therapeutics for Episodic Ataxia, Type 2

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

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

Interventional clinical trials:

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

Search NIH Clinical Center for Episodic Ataxia, Type 2

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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 29 CACNA1A
Sources

Anatomical Context for Episodic Ataxia, Type 2

About this section

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

41
Eye, Brain, Cervix
Sources

Publications for Episodic Ataxia, Type 2

About this section

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 76)
# 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
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. ( 30279196 )
2018
5
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
6
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
7
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
8
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
9
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
10
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
11
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
12
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
13
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
14
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
15
Pearls &amp;amp; Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
16
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. ( 24420976 )
2014
17
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. ( 24658662 )
2014
18
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2. ( 24768804 )
2014
19
The first knockin mouse model of episodic ataxia type 2. ( 25109669 )
2014
20
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2. ( 23548943 )
2013
21
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. ( 23183922 )
2013
22
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. ( 23344743 )
2013
23
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. ( 24665320 )
2013
24
New mutation of CACNA1A gene in episodic ataxia type 2. ( 21696515 )
2011
25
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. ( 21927611 )
2011
26
N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2. ( 19903821 )
2010
27
Phenotypic variability of episodic ataxia type 2 mutations: a family study. ( 20639635 )
2010
28
KCa channels as therapeutic targets in episodic ataxia type-2. ( 20505091 )
2010
29
The dynamic regulation of cortical excitability is altered in episodic ataxia type 2. ( 21126994 )
2010
30
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification. ( 19624685 )
2010
31
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. ( 20129625 )
2010
32
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
33
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. ( 18602318 )
2009
34
Late-onset episodic ataxia type 2 associated with a novel loss-of- function mutation in the CACNA1A gene. ( 19232643 )
2009
35
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood. ( 19864665 )
2009
36
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. ( 19486177 )
2009
37
Large CACNA1A deletion in a family with episodic ataxia type 2. ( 18541804 )
2008
38
Mechanisms of vestibulo-ocular reflex (VOR) cancellation in spinocerebellar ataxia type 3 (SCA-3) and episodic ataxia type 2 (EA-2). ( 18718348 )
2008
39
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. ( 18606230 )
2008
40
Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report. ( 18442126 )
2008
41
Axonal function in a family with episodic ataxia type 2 due to a novel mutation. ( 18338196 )
2008
42
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels. ( 17654512 )
2008
43
Episodic ataxia type 2. ( 17395137 )
2007
44
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. ( 16306128 )
2006
45
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. ( 20396531 )
2006
46
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. ( 16186543 )
2005
47
Internuclear ophthalmoparesis in episodic ataxia type 2. ( 15827025 )
2005
48
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. ( 15710862 )
2005
49
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. ( 15699392 )
2005
50
Deficits in ocular and manual tracking due to episodic ataxia type 2. ( 15254935 )
2004
Sources

Variations for Episodic Ataxia, Type 2

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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.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 570)
# 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_001127221.1(CACNA1A): c.4982G> A (p.Arg1661His) single nucleotide variant Likely pathogenic rs121908216 GRCh37 Chromosome 19, 13346516: 13346516
8 CACNA1A NM_001127221.1(CACNA1A): c.4982G> A (p.Arg1661His) single nucleotide variant Likely pathogenic rs121908216 GRCh38 Chromosome 19, 13235702: 13235702
9 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh37 Chromosome 19, 13470521: 13470521
10 CACNA1A NM_001127221.1(CACNA1A): c.877G> A (p.Gly293Arg) single nucleotide variant Pathogenic rs121908215 GRCh38 Chromosome 19, 13359707: 13359707
11 CACNA1A NM_001127221.1(CACNA1A): c.4469T> C (p.Phe1490Ser) single nucleotide variant Pathogenic rs121908233 GRCh37 Chromosome 19, 13368288: 13368288
12 CACNA1A NM_001127221.1(CACNA1A): c.4469T> C (p.Phe1490Ser) single nucleotide variant Pathogenic rs121908233 GRCh38 Chromosome 19, 13257474: 13257474
13 CACNA1A NM_001127221.1(CACNA1A): c.5266G> A (p.Glu1756Lys) single nucleotide variant Pathogenic rs121908226 GRCh37 Chromosome 19, 13342661: 13342661
14 CACNA1A NM_001127221.1(CACNA1A): c.5266G> A (p.Glu1756Lys) single nucleotide variant Pathogenic rs121908226 GRCh38 Chromosome 19, 13231847: 13231847
15 CACNA1A NM_001127221.1(CACNA1A): c.2816dupG (p.Ser940Glnfs) duplication Pathogenic rs587776694 GRCh38 Chromosome 19, 13298820: 13298820
16 CACNA1A NM_001127221.1(CACNA1A): c.2816dupG (p.Ser940Glnfs) duplication Pathogenic rs587776694 GRCh37 Chromosome 19, 13409634: 13409634
17 CACNA1A NM_001127221.1(CACNA1A): c.4845delG (p.Val1617Serfs) deletion Pathogenic rs587776695 GRCh38 Chromosome 19, 13253015: 13253015
18 CACNA1A NM_001127221.1(CACNA1A): c.4845delG (p.Val1617Serfs) deletion Pathogenic rs587776695 GRCh37 Chromosome 19, 13363829: 13363829
19 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh37 Chromosome 19, 13476262: 13476262
20 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh38 Chromosome 19, 13365448: 13365448
21 CACNA1A NM_001127221.1(CACNA1A): c.3832C> T (p.Arg1278Ter) single nucleotide variant Pathogenic rs121909323 GRCh37 Chromosome 19, 13387936: 13387936
22 CACNA1A NM_001127221.1(CACNA1A): c.3832C> T (p.Arg1278Ter) single nucleotide variant Pathogenic rs121909323 GRCh38 Chromosome 19, 13277122: 13277122
23 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic rs121909324 GRCh37 Chromosome 19, 13366031: 13366031
24 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic rs121909324 GRCh38 Chromosome 19, 13255217: 13255217
25 CACNA1A NM_001127221.1(CACNA1A): c.4208T> G (p.Phe1403Cys) single nucleotide variant Pathogenic rs121908227 GRCh37 Chromosome 19, 13372309: 13372309
26 CACNA1A NM_001127221.1(CACNA1A): c.4208T> G (p.Phe1403Cys) single nucleotide variant Pathogenic rs121908227 GRCh38 Chromosome 19, 13261495: 13261495
27 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
28 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
29 CACNA1A NM_001127221.1(CACNA1A): c.860G> A (p.Cys287Tyr) single nucleotide variant Pathogenic rs121908236 GRCh37 Chromosome 19, 13470538: 13470538
30 CACNA1A NM_001127221.1(CACNA1A): c.860G> A (p.Cys287Tyr) single nucleotide variant Pathogenic rs121908236 GRCh38 Chromosome 19, 13359724: 13359724
31 CACNA1A NC_000019.10: g.13204242_13243808del39567 deletion Pathogenic GRCh38 Chromosome 19, 13204242: 13243808
32 CACNA1A NG_011569.1: g.(5530_139682)_(139773_151661)del deletion Pathogenic GRCh38 Chromosome 19, 13359800: 13505931
33 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)del deletion Pathogenic GRCh38 Chromosome 19, 13335910: 13371687
34 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)del deletion Pathogenic GRCh37 Chromosome 19, 13446724: 13482501
35 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)dup duplication Pathogenic GRCh38 Chromosome 19, 13335910: 13371687
36 CACNA1A NG_011569.1: g.(139774_151662)_(151855_175551)dup duplication Pathogenic GRCh37 Chromosome 19, 13446724: 13482501
37 CACNA1A NC_000019.10: g.(13255260_13259564)_(13259701_?)del deletion Pathogenic GRCh38 Chromosome 19, 13255260: 13259701
38 CACNA1A NG_011569.1: g.(210912_224495)_(286794_296852)del deletion Pathogenic GRCh38 Chromosome 19, 13214609: 13300549
39 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
40 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
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 NM_001127221.1(CACNA1A): c.1165C> T (p.Leu389Phe) single nucleotide variant not provided rs121908239 GRCh37 Chromosome 19, 13445225: 13445225
44 CACNA1A NM_001127221.1(CACNA1A): c.1165C> T (p.Leu389Phe) single nucleotide variant not provided rs121908239 GRCh38 Chromosome 19, 13334411: 13334411
45 CACNA1A NM_001127221.1(CACNA1A): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs121908245 GRCh37 Chromosome 19, 13443725: 13443725
46 CACNA1A NM_001127221.1(CACNA1A): c.1213G> A (p.Ala405Thr) single nucleotide variant Uncertain significance rs121908245 GRCh38 Chromosome 19, 13332911: 13332911
47 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh37 Chromosome 19, 13428124: 13428124
48 CACNA1A NM_001127221.1(CACNA1A): c.1360G> A (p.Ala454Thr) single nucleotide variant Benign/Likely benign rs41276886 GRCh38 Chromosome 19, 13317310: 13317310
49 CACNA1A NM_001127221.1(CACNA1A): c.1502C> T (p.Thr501Met) single nucleotide variant not provided rs121908240 GRCh37 Chromosome 19, 13427982: 13427982
50 CACNA1A NM_001127221.1(CACNA1A): c.1502C> T (p.Thr501Met) single nucleotide variant not provided rs121908240 GRCh38 Chromosome 19, 13317168: 13317168
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 66
Show member pathways
 12.21 CACNA1A CACNB4 KCNA1 KCNC2 KCNMA1
2
Potassium Channels 66
Show member pathways
 11.5 KCNA1 KCNC2 KCNMA1
3
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
11.28 CACNA1A CACNB4 KCNA1 KCNC2
4
Celecoxib Pathway, Pharmacodynamics 61
11.09 CACNA1A CACNB4
5
Netrin Signaling 64
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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