EA2
MCID: EPS035
MIFTS: 66

Episodic Ataxia, Type 2 (EA2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Episodic Ataxia, Type 2

MalaCards integrated aliases for Episodic Ataxia, Type 2:

Name: Episodic Ataxia, Type 2 57 12 53 43
Episodic Ataxia Type 2 11 19 58 28 5 14 71
Apca 57 19 73
Capa 57 19 73
Ea2 57 19 73
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 57 73
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 57 19
Cerebellopathy, Hereditary Paroxysmal 57 19
Episodic Ataxia with Nystagmus 19 73
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia 19
Acetazolamide-Responsive Episodic Ataxia Syndrome 19
Episodic Ataxia, Nystagmus-Associated 57
Nystagmus-Associated Episodic Ataxia 19
Episodic Ataxia Nystagmus-Associated 73
Hereditary Paroxysmal Cerebellopathy 73
Ataxia, Episodic, with Nystagmus 57
Ataxia, Familial, Paroxysmal 19
Ataxia, Familial Paroxysmal 57
Familial Paroxysmal Ataxia 58
Ataxia, Episodic, Type 2 38
Episodic Ataxia 2 73
Ea-2 73

Characteristics:


Inheritance:

Episodic Ataxia, Type 2: Autosomal dominant 57
Familial Paroxysmal Ataxia: Autosomal dominant 58

Age Of Onset:

Familial Paroxysmal Ataxia: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 2

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) (Updated 08-Dec-2022)

MalaCards based summary: Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine and hereditary ataxia, 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 ERK Signaling and MIF Mediated Glucocorticoid Regulation. The drugs Altretamine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related phenotypes are nystagmus and ataxia

GARD: 19 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

Disease Ontology: 11 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.

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

Orphanet: 58 A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

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
Episodic Ataxia, Type 9 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 177)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 31.3 SCN1A KCNK18 KCNA1 CACNB4 CACNA1S CACNA1H
2 hereditary ataxia 30.9 KCNC3 KCNA1 FGF14 CACNA1A ATXN7
3 cerebellar disease 30.8 KCNC3 FGF14 CACNA1A ATXN7
4 migraine, familial hemiplegic, 1 30.7 SCN1A KCNK18 KCNA1 CACNA1A ATP1A2
5 hemiplegia 30.7 SCN1A CACNA1A ATP1A2
6 spinocerebellar ataxia 6 30.6 SCN1A LOC108663985 KCNK18 KCNC3 KCNA1 CAV2
7 autosomal dominant cerebellar ataxia 30.6 LOC108663985 KCNC3 KCNA1 FGF14 CACNA1G CACNA1A
8 headache 30.4 SCN1A CACNA1A ATP1A2
9 episodic ataxia, type 1 30.2 KCNC3 KCNA1 FGF14 CACNB4 CACNA1A
10 migraine with or without aura 1 30.2 SCN1A KCNK18 KCNA1 CAV2 CACNB4 CACNA1S
11 episodic ataxia 30.0 SCN1A KCNK18 KCNC3 KCNA1 FGF14 CAV2
12 migraine with aura 29.9 SCN1A KCNK18 KCNA1 CACNB4 CACNA1E CACNA1B
13 epilepsy 29.8 SCN1A KCNA1 CACNB4 CACNA1I CACNA1H CACNA1G
14 postinfectious cerebellitis 11.1
15 hereditary episodic ataxia 11.0
16 pathologic nystagmus 10.7
17 oto-palatal-digital syndrome 10.7
18 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
19 aspergillosis 10.5
20 aceruloplasminemia 10.4
21 developmental and epileptic encephalopathy 42 10.4
22 dystonia 10.4
23 episodic ataxia, type 4 10.4 CACNB4 CACNA1A
24 episodic ataxia, type 3 10.4 CACNB4 CACNA1A
25 covid-19 10.3
26 episodic ataxia, type 7 10.3 KCNA1 CACNB4 CACNA1A
27 familial or sporadic hemiplegic migraine 10.3 SCN1A CACNA1A ATP1A2
28 neonatal period electroclinical syndrome 10.3 SCN1A KCNA1 CACNA1A
29 paroxysmal extreme pain disorder 10.3 SCN1A CACNA1B CACNA1A
30 non-specific early-onset epileptic encephalopathy 10.3 CACNA1B CACNA1A ATP1A2
31 spinocerebellar ataxia, autosomal recessive 4 10.3 KCNC3 CACNA1A ATXN7
32 cerebellar ataxia type 42 10.3 CACNA1G ATXN7
33 spinocerebellar ataxia 1 10.3 KCNC3 CACNA1A ATXN7
34 alternating hemiplegia of childhood 10.3 SCN1A CACNA1A ATP1A2
35 developmental and epileptic encephalopathy 52 10.3 SCN1A CACNA1A
36 brain small vessel disease 1 10.3 KCNK18 CACNA1A ATP1A2
37 neuronal migration disorders 10.3 SCN1A ATP1A2
38 machado-joseph disease 10.3
39 spinocerebellar ataxia, autosomal recessive 17 10.3 KCNC3 CACNA1G CACNA1A
40 adult respiratory distress syndrome 10.3
41 retinal arteries, tortuosity of 10.3 KCNK18 CACNA1A ATP1A2
42 trigeminal neuralgia 10.3 SCN1A CACNA1H CACNA1A
43 spinocerebellar ataxia type 19/22 10.2 KCNC3 FGF14
44 spinal and bulbar muscular atrophy, x-linked 1 10.2 KCNC3 CACNA1A ATXN7
45 cerebellar ataxia type 48 10.2 CACNA1A ATXN7
46 cerebellar ataxia type 43 10.2 KCNC3 FGF14
47 brugada syndrome 3 10.2 CACNA1S CACNA1C
48 developmental and epileptic encephalopathy 21 10.2 SCN1A CACNA1A
49 spinocerebellar ataxia 13 10.2 KCNC3 KCNA1 FGF14
50 early myoclonic encephalopathy 10.2 SCN1A KCNA1 CACNB4 CACNA1A

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



Diseases related to Episodic Ataxia, Type 2

Symptoms & Phenotypes for Episodic Ataxia, Type 2

Human phenotypes related to Episodic Ataxia, Type 2:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
dysarthria
myotonia
vertigo
weakness
interictal downbeat nystagmus
more
Head And Neck Eyes:
saccadic smooth pursuit
gaze-evoked nystagmus
ictal and interictal diplopia
suppression of vestibuloocular reflex
interictal downbeat nystagmus
more
Head And Neck Ears:
tinnitus

Clinical features from OMIM®:

108500 (Updated 08-Dec-2022)

UMLS symptoms related to Episodic Ataxia, Type 2:


ataxia; vertigo; tinnitus; weakness

MGI Mouse Phenotypes related to Episodic Ataxia, Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1C CACNA1E
2 growth/size/body region MP:0005378 10.11 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1C CACNA1E
3 muscle MP:0005369 10 ATP1A2 ATXN7 CACNA1A CACNA1C CACNA1H CACNA1S
4 cardiovascular system MP:0005385 9.7 ATP1A2 CACNA1B CACNA1C CACNA1F CACNA1G CACNA1H
5 behavior/neurological MP:0005386 9.55 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1C CACNA1E

Drugs & Therapeutics for Episodic Ataxia, Type 2

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Altretamine Approved 645-05-6 2123
2
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
3
Polyestradiol phosphate Approved 28014-46-2
4
Follitropin Approved, Vet_approved 97048-13-0, 146479-72-3, 9002-68-0 62819
5
Sage Approved
6
Sargramostim Approved, Investigational 123774-72-1
7
Molgramostim Investigational 99283-10-0
8 Insulin, Globin Zinc
9
Insulin
10 Estradiol 3-benzoate
11 Estradiol 17 beta-cypionate
12 Pharmaceutical Solutions
13 Hormones

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Withdrawn NCT01543750 Phase 2 4-Aminopyridine;Placebo
2 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 Completed NCT03915054 AREG-TRIGGER;CONTROL-TRIGGER
3 Outcomes of Fresh Transfer Versus Freeze-only After CAPA IVM on PCOS Patients Completed NCT04297553
4 Effect of Single vs. Group CAPA-IVM Culture of Human Cumulus-oocyte Complexes From Small Antral Follicles in a SIBLING Oocyte Study Design Completed NCT04562883
5 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
6 Prospective Study for Diagnosis Utility of Array-CGH Screening in Case of Non Syndromic Congenital Heart Defect in Prenatal Diagnosis (CAPA) Completed NCT02333097
7 CAPA-VU Trial Catheter Ablation in Paroxymal Atrial Fibrillation Based on UNIVU Completed NCT03198858
8 Follow-up of Children Born From CAPA-IVM IVF or Natural Conception: a Prospective Cohort Study Completed NCT04048486
9 Effect of Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) on Human in Vitro Oocyte Maturation (CAPA-IVM System) Success Rates in PCOS Recruiting NCT04774432
10 COVID-19 Associated Pulmonary Aspergillosis (CAPA) and Other Invasive Fungal Infections (IFI) Recruiting NCT04818853
11 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
12 The Efficiency of Non-FSH Versus FSH-priming in CAPA-IVM Cycles: a Randomized Clinical Trial Not yet recruiting NCT05600972

Search NIH Clinical Center for Episodic Ataxia, Type 2

Cochrane evidence based reviews: 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 28 CACNA1A

Anatomical Context for Episodic Ataxia, Type 2

Organs/tissues related to Episodic Ataxia, Type 2:

MalaCards : Brain, Cerebellum, Spinal Cord, Heart, Prefrontal Cortex, Dorsal Root Ganglion, Hypothalamus
ODiseA: Brain, Brain-Cerebellum

Publications for Episodic Ataxia, Type 2

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 1622)
# Title Authors PMID Year
1
Large CACNA1A deletion in a family with episodic ataxia type 2. 53 62 57 5
18541804 2008
2
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 53 62 57 5
9302278 1997
3
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 62 57 5
27250579 2016
4
Clinical spectrum of episodic ataxia type 2. 62 57 5
14718690 2004
5
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 62 57 5
8898206 1996
6
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 53 62 5
20129625 2010
7
Identification of CACNA1A large deletions in four patients with episodic ataxia. 53 62 57
19633872 2010
8
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. 53 62 5
19486177 2009
9
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 53 62 5
16325861 2006
10
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. 53 62 57
16186543 2005
11
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 53 62 57
15710862 2005
12
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. 53 62 5
11370629 2001
13
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. 53 62 5
11179022 2001
14
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 53 62 5
10987655 1999
15
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 53 62 5
10371528 1999
16
Eye movement disorders are an early manifestation of CACNA1A mutations in children. 62 5
26814174 2016
17
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 62 5
25735478 2015
18
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. 62 5
22942164 2012
19
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 62 57
21734179 2011
20
Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. 62 5
21927611 2011
21
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 62 5
19586927 2009
22
Nonconsensus intronic mutations cause episodic ataxia. 62 5
15622542 2005
23
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. 62 57
15136697 2004
24
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 62 57
14681882 2003
25
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 62 5
11723274 2001
26
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 62 5
10408533 1999
27
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. 62 5
9600739 1998
28
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). 62 57
9390841 1997
29
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p. 62 5
9005860 1997
30
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. 62 57
7757080 1995
31
Magnetic resonance imaging in familial paroxysmal ataxia. 62 57
3358708 1988
32
Acetazolamide-responsive episodic ataxia syndrome. 62 57
6684259 1983
33
High genetic burden in 163 Chinese children with status epilepticus. 5
33278787 2021
34
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders. 5
33233562 2020
35
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. 5
31618753 2020
36
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. 5
31468518 2019
37
A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating. 5
31015257 2019
38
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. 5
31139143 2019
39
Genetic landscape of pediatric movement disorders and management implications. 5
30283815 2018
40
Novel and de novo mutations in pediatric refractory epilepsy. 5
30185235 2018
41
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 5
29056246 2017
42
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 5
29100083 2017
43
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 5
29186148 2017
44
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 5
28742085 2017
45
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 5
28444220 2017
46
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 5
28007337 2017
47
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 5
27959697 2017
48
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 5
27476654 2016
49
Clinical application of whole-exome sequencing across clinical indications. 5
26633542 2016
50
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015

Variations for Episodic Ataxia, Type 2

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

5 (show top 50) (show all 1717)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.4205T>G (p.Phe1402Cys) SNV Pathogenic
8508 rs121908227 GRCh37: 19:13372309-13372309
GRCh38: 19:13261495-13261495
2 CACNA1A NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr) SNV Pathogenic
8511 rs121908236 GRCh37: 19:13470538-13470538
GRCh38: 19:13359724-13359724
3 overlap with 2 genes nsv1067873 DEL Pathogenic
8512 GRCh37: 19:13315086-13354652
GRCh38: 19:13204242-13243808
4 CACNA1A and overlap with 2 gene(s) NC_000019.10:g.(13359800_13371688)_(13371779_13505931)del DEL Pathogenic
8514 GRCh37:
GRCh38: 19:13359800-13505931
5 CACNA1A NC_000019.10:g.(13335910_13359606)_(13359799_13371687)del DEL Pathogenic
8515 GRCh37: 19:13446724-13482501
GRCh38: 19:13335910-13371687
6 CACNA1A NC_000019.10:g.(13335910_13359606)_(13359799_13371687)dup DUP Pathogenic
8516 GRCh37: 19:13446724-13482501
GRCh38: 19:13335910-13371687
7 CACNA1A NC_000019.10:g.(13255260_13259564)_(13259701_?)del DEL Pathogenic
8517 GRCh37:
GRCh38: 19:13255260-13259701
8 CACNA1A and overlap with 1 gene(s) NC_000019.10:g.(13214609_13224667)_(13286966_13300549)del DEL Pathogenic
8518 GRCh37:
GRCh38: 19:13214609-13300549
9 CACNA1A and overlap with 1 gene(s) NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del DEL Pathogenic
8519 GRCh37: 19:13317256-13335480
GRCh38: 19:13206442-13224666
10 CACNA1A NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys) SNV Pathogenic
8500 rs121908226 GRCh37: 19:13342661-13342661
GRCh38: 19:13231847-13231847
11 CACNA1A NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs) DUP Pathogenic
8501 rs587776694 GRCh37: 19:13409633-13409634
GRCh38: 19:13298819-13298820
12 CACNA1A NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs) DEL Pathogenic
8502 rs587776695 GRCh37: 19:13363829-13363829
GRCh38: 19:13253015-13253015
13 CACNA1A NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter) SNV Pathogenic
Pathogenic
8506 rs121909323 GRCh37: 19:13387936-13387936
GRCh38: 19:13277122-13277122
14 CACNA1A NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs) DEL Pathogenic
187828 rs786200962 GRCh37: 19:13409582-13409582
GRCh38: 19:13298768-13298768
15 CACNA1A and overlap with 1 gene(s) GRCh38/hg38 19p13.13(chr19:13408530-13493692)x1 CN LOSS Pathogenic
187830 GRCh37: 19:13519344-13604506
GRCh38: 19:13408530-13493692
16 CACNA1A NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs) INDEL Pathogenic
542835 rs1555756461 GRCh37: 19:13410128-13410130
GRCh38: 19:13299314-13299316
17 CACNA1A NM_001127222.2(CACNA1A):c.3692+1G>T SNV Pathogenic
562220 rs1315533129 GRCh37: 19:13395881-13395881
GRCh38: 19:13285067-13285067
18 CACNA1A NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) SNV Pathogenic
617754 rs774224202 GRCh37: 19:13387922-13387922
GRCh38: 19:13277108-13277108
19 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic
Pathogenic/Likely Pathogenic
8507 rs121909324 GRCh37: 19:13366031-13366031
GRCh38: 19:13255217-13255217
20 CACNA1A NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs) DEL Pathogenic
8491 rs587776692 GRCh37: 19:13394109-13394109
GRCh38: 19:13283295-13283295
21 CACNA1A NM_001127222.2(CACNA1A):c.3989+1G>A SNV Pathogenic
8492 rs587776693 GRCh37: 19:13386663-13386663
GRCh38: 19:13275849-13275849
22 CACNA1A NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) DUP Pathogenic
637965 rs1600272344 GRCh37: 19:13409632-13409633
GRCh38: 19:13298818-13298819
23 CACNA1A NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs) DEL Pathogenic
659920 rs1568494824 GRCh37: 19:13397337-13397337
GRCh38: 19:13286523-13286523
24 CACNA1A NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) DEL Pathogenic
803531 rs1600242882 GRCh37: 19:13395996-13395996
GRCh38: 19:13285182-13285182
25 CACNA1A NC_000019.9:g.(?_13414350)_13418678del DEL Pathogenic
1070483 GRCh37:
GRCh38:
26 CACNA1A NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) DEL Pathogenic
974623 rs2056600391 GRCh37: 19:13368214-13368215
GRCh38: 19:13257400-13257401
27 CACNA1A NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) SNV Pathogenic
951391 rs2058143736 GRCh37: 19:13427943-13427943
GRCh38: 19:13317129-13317129
28 CACNA1A NM_001127222.2(CACNA1A):c.1914-10_2172+10del DEL Pathogenic
956660 GRCh37: 19:13414350-13418678
GRCh38: 19:13303536-13307864
29 CACNA1A NM_001127222.2(CACNA1A):c.4089+2T>G SNV Pathogenic
981625 rs1600198365 GRCh37: 19:13373546-13373546
GRCh38: 19:13262732-13262732
30 CACNA1A NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter) SNV Pathogenic
1027685 rs1568507151 GRCh37: 19:13409408-13409408
GRCh38: 19:13298594-13298594
31 CACNA1A NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter) SNV Pathogenic
1033712 rs2057736834 GRCh37: 19:13409965-13409965
GRCh38: 19:13299151-13299151
32 CACNA1A NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) SNV Pathogenic
994806 rs2057948502 GRCh37: 19:13419062-13419062
GRCh38: 19:13308248-13308248
33 CACNA1A NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs) DEL Pathogenic
1373236 GRCh37: 19:13409607-13409607
GRCh38: 19:13298793-13298793
34 CACNA1A NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs) DUP Pathogenic
1376008 GRCh37: 19:13470521-13470522
GRCh38: 19:13359707-13359708
35 CACNA1A NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs) DUP Pathogenic
1377252 GRCh37: 19:13340946-13340947
GRCh38: 19:13230132-13230133
36 CACNA1A NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs) DUP Pathogenic
1395073 GRCh37: 19:13616913-13616914
GRCh38: 19:13506099-13506100
37 CACNA1A NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter) SNV Pathogenic
985513 rs767534576 GRCh37: 19:13409923-13409923
GRCh38: 19:13299109-13299109
38 CACNA1A NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs) DEL Pathogenic
1382040 GRCh37: 19:13387924-13387927
GRCh38: 19:13277110-13277113
39 CACNA1A NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter) SNV Pathogenic
1374639 GRCh37: 19:13563722-13563722
GRCh38: 19:13452908-13452908
40 CACNA1A NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs) DEL Pathogenic
1387896 GRCh37: 19:13397587-13397593
GRCh38: 19:13286773-13286779
41 overlap with 31 genes NC_000019.9:g.(?_12757434)_(13373667_?)del DEL Pathogenic
1412640 GRCh37: 19:12757434-13373667
GRCh38:
42 CACNA1A NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs) DEL Pathogenic
1401261 GRCh37: 19:13370400-13370400
GRCh38: 19:13259586-13259586
43 CACNA1A NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter) SNV Pathogenic
1416873 GRCh37: 19:13366065-13366065
GRCh38: 19:13255251-13255251
44 CACNA1A NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs) DUP Pathogenic
1428047 GRCh37: 19:13341015-13341016
GRCh38: 19:13230201-13230202
45 CACNA1A NM_001127222.2(CACNA1A):c.5529-1214del DEL Pathogenic
1450975 GRCh37: 19:13339555-13339555
GRCh38: 19:13228741-13228741
46 CACNA1A NC_000019.9:g.(?_13427906)_(13617038_?)del DEL Pathogenic
1366064 GRCh37: 19:13427906-13617038
GRCh38:
47 CACNA1A NC_000019.9:g.(?_13318860)_(13325442_?)del DEL Pathogenic
1460138 GRCh37: 19:13318860-13325442
GRCh38:
48 overlap with 31 genes NC_000019.9:g.(?_12757434)_(13617038_?)del DEL Pathogenic
1457169 GRCh37: 19:12757434-13617038
GRCh38:
49 CACNA1A NC_000019.9:g.(?_13563670)_(13574132_?)del DEL Pathogenic
1455297 GRCh37: 19:13563670-13574132
GRCh38:
50 CACNA1A NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter) SNV Pathogenic
1458951 GRCh37: 19:13423574-13423574
GRCh38: 19:13312760-13312760

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

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

Expression for Episodic Ataxia, Type 2

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

Pathways for Episodic Ataxia, Type 2

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

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 FGF14 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G
2
Show member pathways
13.64 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
3
Show member pathways
13.62 SCN1A PSMC4 CACNB4 CACNA1S CACNA1I CACNA1H
4
Show member pathways
13.61 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
5
Show member pathways
13.43 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
6
Show member pathways
13.37 FGF14 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G
7
Show member pathways
13.12 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
8
Show member pathways
13.11 KCNK18 KCNC3 KCNA1 CACNB4 CACNA1E CACNA1B
9
Show member pathways
13 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
10
Show member pathways
12.95 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
11
Show member pathways
12.92 SCN1A KCNK18 FGF14 CACNA1I CACNA1H CACNA1G
12
Show member pathways
12.91 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
13
Show member pathways
12.83 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
14
Show member pathways
12.81 PSMC4 CACNA1S CACNA1C CACNA1B CACNA1A
15
Show member pathways
12.73 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
16
Show member pathways
12.51 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1S
17 12.46 CACNA1A CACNA1B CACNA1E CACNA1F CACNA1G CACNA1H
18 12.44 KCNC3 KCNA1 CACNB4 CACNA1S CACNA1F CACNA1E
19
Show member pathways
12.34 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
20 12.15 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
21
Show member pathways
12.06 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1C
22
Show member pathways
12.02 CACNA1S CACNA1C CACNA1B ATP1A2
23 11.66 CACNB4 CACNA1S CACNA1E CACNA1C CACNA1B CACNA1A
24 11.59 FGF14 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G
25 11.56 CACNA1H CACNA1G CACNA1C
26 11.53 CACNA1B CACNA1A ATP1A2
27 11.47 CACNA1I CACNA1H CACNA1G
28
Show member pathways
11.44 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
29 11.42 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
30 11.34 SCN1A FGF14 CACNA1C
31 11.15 CACNA1C CACNA1B CACNA1A
32
Show member pathways
11 CACNA1F CACNA1C
33 10.95 CACNA1E CACNA1C CACNA1B CACNA1A
34
Show member pathways
10.55 CACNA1G CACNA1C

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 membrane GO:0016020 10.52 ATP1A2 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F
2 membrane GO:0016021 10.52 ATP1A2 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F
3 neuronal cell body GO:0043025 10.13 ATP1A2 CACNA1A CACNA1B CACNA1E CACNA1F KCNA1
4 perikaryon GO:0043204 10.01 KCNC3 KCNA1 CACNA1F CACNA1C
5 synapse GO:0045202 10 ATP1A2 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1G
6 T-tubule GO:0030315 9.91 SCN1A CACNA1S CACNA1C ATP1A2
7 L-type voltage-gated calcium channel complex GO:1990454 9.73 CACNA1S CACNA1C
8 voltage-gated calcium channel complex GO:0005891 9.62 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
9 voltage-gated sodium channel complex GO:0001518 9.56 SCN1A CACNA1I CACNA1H CACNA1G

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.29 CACNA1A CACNA1B CACNA1E CACNA1G CACNB4 KCNA1
2 potassium ion transmembrane transport GO:0071805 10.19 KCNK18 KCNC3 KCNA1 ATP1A2
3 sodium ion transmembrane transport GO:0035725 10.19 SCN1A CACNA1I CACNA1H CACNA1G ATP1A2
4 calcium ion transmembrane transport GO:0070588 10.19 CACNB4 CACNA1S CACNA1I CACNA1H CACNA1G CACNA1F
5 calcium ion import across plasma membrane GO:0098703 10.15 CACNA1S CACNA1F CACNA1E CACNA1C CACNA1B CACNA1A
6 potassium ion transport GO:0006813 10.11 KCNK18 KCNC3 KCNA1 ATP1A2
7 neuronal action potential GO:0019228 10.1 CACNA1G CACNA1H CACNA1I KCNA1 SCN1A
8 transmembrane transport GO:0055085 10.1 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
9 regulation of membrane potential GO:0042391 10.08 CACNA1G CACNA1H CACNB4 KCNA1 SCN1A
10 calcium ion import GO:0070509 10.03 CACNA1G CACNA1H CACNA1I
11 membrane depolarization during action potential GO:0086010 10.03 SCN1A CACNA1I CACNA1H CACNA1G
12 cardiac muscle cell action potential involved in contraction GO:0086002 10.01 SCN1A CACNA1G CACNA1C
13 positive regulation of calcium ion-dependent exocytosis GO:0045956 10 CACNA1I CACNA1H CACNA1G
14 monoatomic cation transmembrane transport GO:0098655 9.95 SCN1A CACNA1G CACNA1A ATP1A2
15 monoatomic ion transmembrane transport GO:0034220 9.93 SCN1A CACNA1H CACNA1G CACNA1C CACNA1A ATP1A2
16 calcium ion transport GO:0006816 9.9 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
17 neuronal action potential propagation GO:0019227 9.89 SCN1A CACNB4
18 membrane depolarization during AV node cell action potential GO:0086045 9.88 CACNA1G CACNA1C
19 monoatomic ion transport GO:0006811 9.83 ATP1A2 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F
20 regulation of monoatomic ion transmembrane transport GO:0034765 9.68 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated monoatomic ion channel activity GO:0005244 10.17 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
2 voltage-gated calcium channel activity GO:0005245 10.11 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
3 voltage-gated sodium channel activity GO:0005248 10.03 SCN1A CACNA1I CACNA1H CACNA1G
4 monoatomic ion channel activity GO:0005216 10.03 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
5 scaffold protein binding GO:0097110 9.99 CAV2 CACNA1H CACNA1G
6 low voltage-gated calcium channel activity GO:0008332 9.88 CACNA1I CACNA1H CACNA1G
7 potassium channel activity GO:0005267 9.8 KCNK18 KCNC3 KCNA1
8 monoatomic cation channel activity GO:0005261 9.77 CACNA1A CACNA1B CACNA1G CACNA1I SCN1A
9 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.76 CACNA1G CACNA1C
10 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 9.65 SCN1A KCNA1
11 calcium channel activity GO:0005262 9.65 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1G
12 high voltage-gated calcium channel activity GO:0008331 9.47 CACNA1A CACNA1B CACNA1C CACNA1E CACNA1F CACNA1S

Sources for Episodic Ataxia, Type 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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