EA2
MCID: EPS035
MIFTS: 63

Episodic Ataxia, Type 2 (EA2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 2

MalaCards integrated aliases for Episodic Ataxia, Type 2:

Name: Episodic Ataxia, Type 2 57 13 54
Episodic Ataxia Type 2 12 20 58 29 6 15 70
Apca 57 20 72
Capa 57 20 72
Ea2 57 20 72
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia 57 72
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive 57 20
Cerebellopathy, Hereditary Paroxysmal 57 20
Episodic Ataxia with Nystagmus 20 72
Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia; Apca 57
Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia 20
Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive; Capa 57
Acetazolamide-Responsive Episodic Ataxia Syndrome 20
Episodic Ataxia, Nystagmus-Associated 57
Nystagmus-Associated Episodic Ataxia 20
Episodic Ataxia Nystagmus-Associated 72
Hereditary Paroxysmal Cerebellopathy 72
Ataxia, Episodic, with Nystagmus 57
Ataxia, Familial, Paroxysmal 20
Ataxia, Familial Paroxysmal 57
Familial Paroxysmal Ataxia 58
Ataxia, Episodic, Type 2 39
Episodic Ataxia 2 72
Ea-2 72

Characteristics:

Orphanet epidemiological data:

58
familial paroxysmal ataxia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
most common episodic ataxia syndrome
onset usually in childhood or adolescence
onset may occur in adulthood
progressive ataxia
episodes last from several hours to days
frequency of episodes ranges from several per week to several per year
symptoms precipitated by sudden movement, stress, exertion, exercise, fatigue, caffeine, alcohol, cigarettes
favorable response of episodic attacks to acetazolamide
phenotypic overlap with fhm1 and sca6

Inheritance:
autosomal dominant


HPO:

31
episodic ataxia, type 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 2

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97 Definition 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.

MalaCards based summary : Episodic Ataxia, Type 2, also known as episodic ataxia type 2, is related to familial hemiplegic migraine 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 Activation of cAMP-Dependent PKA and Integrin Pathway. The drugs Sage and Menotropins have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related phenotypes are nystagmus and ataxia

Disease Ontology : 12 An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has material basis in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A.

OMIM® : 57 Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). (108500) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Episodic ataxia 2: An autosomal dominant disorder characterized by acetozolamide- responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.

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 125)
# Related Disease Score Top Affiliating Genes
1 familial hemiplegic migraine 32.0 SCN1A KCNA1 CACNA1S CACNA1B CACNA1A ATP1A2
2 spinocerebellar ataxia 6 31.2 SCN1A LOC108663985 KCNA1 CAV2 CACNB4 CACNA1S
3 hemiplegia 30.7 SCN1A CACNA1A ATP1A2
4 familial or sporadic hemiplegic migraine 30.7 SCN1A CACNA1A ATP1A2
5 sporadic hemiplegic migraine 30.5 SCN1A CACNA1A ATP1A2
6 migraine with or without aura 1 30.5 SCN1A KCNA1 CAV2 CACNB4 CACNA1S CACNA1E
7 autosomal dominant cerebellar ataxia 30.5 SPTBN2 LOC108663985 KCNC3 KCNA1 ITPR1 CACNA1A
8 migraine with aura 30.3 SCN1A KCNA1 CACNA1B CACNA1A ATP1A2
9 headache 30.3 SCN1A CACNB4 CACNA1S CACNA1A ATP1A2
10 cerebellar disease 30.2 SPTBN2 KCNC3 ITPR1 CACNA1A ATXN7
11 migraine, familial hemiplegic, 1 30.2 SCN1A KCNA1 CAV2 CACNA1S CACNA1E CACNA1B
12 spinocerebellar ataxia 2 30.2 KCNN3 ITPR1 CACNA1A ATXN7
13 episodic ataxia 29.8 SPTBN2 SCN1A RNF138 PSMC4 LOC108663985 KCNMA1
14 ataxia and polyneuropathy, adult-onset 11.0
15 pathologic nystagmus 10.7
16 developmental and epileptic encephalopathy 42 10.6
17 hereditary episodic ataxia 10.4 KCNA1 CACNA1A
18 episodic ataxia, type 7 10.4 KCNA1 CACNA1A
19 episodic ataxia, type 5 10.4 CACNB4 CACNA1A ATP1A2
20 adolescence-adult electroclinical syndrome 10.3 SCN1A CACNB4 CACNA1A
21 childhood electroclinical syndrome 10.3 SCN1A CACNB4 CACNA1A
22 neuropathy, hereditary sensory and autonomic, type vii 10.3 CACNA1S CACNA1A
23 migraine, familial hemiplegic, 2 10.3 SCN1A CACNA1A ATP1A2
24 infancy electroclinical syndrome 10.3 SCN1A CACNA1A ATP1A2
25 fleck retina, familial benign 10.3 CACNA1E CACNA1B CACNA1A
26 dystonia 10.3
27 benign neonatal seizures 10.3 SCN1A KCNA1 CACNB4
28 neonatal period electroclinical syndrome 10.3 SCN1A KCNA1 CACNA1A
29 benign paroxysmal positional nystagmus 10.3 SH2D1B CACNA1A
30 cerebellar ataxia type 42 10.3 KCNC3 CACNA1B CACNA1A
31 migraine without aura 10.3 SCN1A CACNA1A ATP1A2
32 paroxysmal extreme pain disorder 10.3 SCN1A CACNA1B CACNA1A
33 hypokalemic periodic paralysis, type 1 10.3 KCNMA1 CACNA1S CACNA1A
34 developmental and epileptic encephalopathy 14 10.3 SCN1A KCNA1
35 erythromelalgia 10.3 SCN1A PSMC4 CACNA1B
36 benign familial infantile epilepsy 10.3 SCN1A CACNA1A ATP1A2
37 brill-zinsser disease 10.3 SPTBN2 CAV2
38 epilepsy, nocturnal frontal lobe, 1 10.3 SCN1A KCNA1
39 alternating hemiplegia of childhood 10.3 SCN1A CACNA1A ATP1A2
40 spinocerebellar ataxia, autosomal recessive 14 10.3 SPTBN2 CACNA1A
41 cerebellar ataxia type 41 10.3 KCNC3 ITPR1
42 spinocerebellar ataxia 10 10.3 KCNC3 CACNA1A ATXN7
43 migraine, familial hemiplegic, 3 10.2 SCN1A KCNA1 CACNA1A ATP1A2
44 epilepsy, myoclonic juvenile 10.2 SCN1A KCNA1 CACNB4 CACNA1A
45 spinocerebellar ataxia, autosomal recessive 8 10.2 SPTBN2 CACNA1A ATXN7
46 episodic ataxia, type 1 10.2 KCNC3 KCNA1 CACNB4 CACNA1A
47 autosomal dominant nocturnal frontal lobe epilepsy 10.2 SCN1A KCNMA1 KCNA1 CACNB4
48 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 CACNA1A ATXN7
49 inner ear disease 10.2 CACNA1S CACNA1E CACNA1A
50 spinal and bulbar muscular atrophy, x-linked 1 10.2 KCNC3 CACNA1A ATXN7

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 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
4 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
5 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
8 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
9 hemiplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002301
10 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
11 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
12 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
13 cerebellar vermis atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0006855
14 dystonia 58 31 Frequent (79-30%) HP:0001332
15 muscle weakness 31 HP:0001324
16 myotonia 31 HP:0002486
17 paresthesia 31 HP:0003401
18 vestibular dysfunction 31 HP:0001751
19 episodic ataxia 31 HP:0002131
20 progressive cerebellar ataxia 31 HP:0002073
21 saccadic smooth pursuit 31 HP:0001152
22 gaze-evoked nystagmus 31 HP:0000640
23 downbeat nystagmus 31 HP:0010545

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 10.31 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1E CACNA1S
2 growth/size/body region MP:0005378 10.27 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1E CACNA1S
3 mortality/aging MP:0010768 10.17 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1S CACNA2D2
4 nervous system MP:0003631 10.06 ATP1A2 ATXN7 CACNA1A CACNA1B CACNA1E CACNA1S
5 muscle MP:0005369 10 ATP1A2 ATXN7 CACNA1A CACNA1S CACNA2D2 CACNB4
6 reproductive system MP:0005389 9.61 ATXN7 CACNA1A CACNA2D2 CACNB4 ITPR1 KCNMA1
7 respiratory system MP:0005388 9.17 ATP1A2 CACNA1A CACNA1S CACNA2D2 CAV2 KCNN3

Drugs & Therapeutics for Episodic Ataxia, Type 2

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sage Approved
2
Menotropins Approved 9002-68-0, 61489-71-2 5360545
3
Altretamine Approved 645-05-6 2123
4
Polyestradiol phosphate Approved 28014-46-2
5
tannic acid Approved 1401-55-4
6
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
7
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
8
Sargramostim Approved, Investigational 123774-72-1, 83869-56-1
9
Molgramostim Investigational 99283-10-0
10 Pharmaceutical Solutions
11 insulin
12 Mitogens
13 Natriuretic Peptide, C-Type
14 Follicle Stimulating Hormone
15 Hormones
16 Estradiol 17 beta-cypionate
17 Estradiol 3-benzoate
18 Insulin, Globin Zinc
19 Estrogens

Interventional clinical trials:

(show all 13)
# 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-IVM medium;STD medium
3 A Clinical Study of Electroacupuncture for Abdominal Pain Relief in Patients With Acute Pancreatitis Completed NCT03173222
4 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
5 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
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 Outcomes of Fresh Transfer Versus Freeze-only After CAPA IVM on PCOS Patients Completed NCT04297553
9 Follow-up of Children Born From CAPA-IVM IVF or Natural Conception: a Prospective Cohort Study Completed NCT04048486
10 Trial Investigating the Developmental Potential of Embryos Obtained After Biphasic in Vitro Oocyte Maturation (IVM) of Oocytes Including a Pre Maturation Culture Step ('Capacitation Step') Compared With Standard IVM. Recruiting NCT04285892
11 A Novel mHealth Approach to Assess and Manage Palliative Care Needs for Cancer Patients in Kigali Recruiting NCT03367637
12 COVID-19 Associated Pulmonary Aspergillosis (CAPA) and Other Invasive Fungal Infections (IFI) Recruiting NCT04818853
13 Effect of Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) on Human in Vitro Oocyte Maturation (CAPA-IVM System) Success Rates in PCOS Not yet recruiting NCT04774432

Search NIH Clinical Center for Episodic Ataxia, Type 2

Genetic Tests for Episodic Ataxia, Type 2

Genetic tests related to Episodic Ataxia, Type 2:

# Genetic test Affiliating Genes
1 Episodic Ataxia Type 2 29 CACNA1A

Anatomical Context for Episodic Ataxia, Type 2

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

40
Eye, Brain, Cortex, Cerebellum

Publications for Episodic Ataxia, Type 2

Articles related to Episodic Ataxia, Type 2:

(show top 50) (show all 290)
# Title Authors PMID Year
1
Identification of CACNA1A large deletions in four patients with episodic ataxia. 57 6 54 61
19633872 2010
2
Large CACNA1A deletion in a family with episodic ataxia type 2. 57 6 54 61
18541804 2008
3
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. 57 6 61 54
9302278 1997
4
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. 57 6 61
27250579 2016
5
Clinical spectrum of episodic ataxia type 2. 61 6 57
14718690 2004
6
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 61 6 57
8898206 1996
7
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 61 54 6
20129625 2010
8
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2. 61 54 6
19486177 2009
9
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2. 54 6 61
18606230 2008
10
Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. 61 54 6
20396531 2006
11
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 6 54 61
16325861 2006
12
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. 57 54 61
16186543 2005
13
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. 61 57 54
15710862 2005
14
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 54 6 61
12420090 2002
15
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2. 61 6 54
11370629 2001
16
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. 54 6 61
11179022 2001
17
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 61 6 54
10987655 1999
18
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. 54 61 6
10371528 1999
19
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. 61 6
30142438 2019
20
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. 6 61
28566750 2017
21
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. 6 61
27871455 2016
22
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. 6 61
27066515 2016
23
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. 61 6
26912519 2016
24
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 61 6
25735478 2015
25
Rebound upbeat nystagmus after lateral gaze in episodic ataxia type 2. 61 6
24420976 2014
26
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. 61 6
24658662 2014
27
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. 6 61
24486772 2014
28
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. 61 6
23344743 2013
29
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. 57 61
21734179 2011
30
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 61 6
19586927 2009
31
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. 61 57
15136697 2004
32
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. 61 57
14681882 2003
33
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 6 61
11723274 2001
34
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 61 6
10408533 1999
35
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia. 61 6
9600739 1998
36
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). 61 57
9390841 1997
37
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. 6
31468518 2019
38
Genetic landscape of pediatric movement disorders and management implications. 6
30283815 2018
39
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 6
29056246 2017
40
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
41
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 6
28742085 2017
42
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. 6
28444220 2017
43
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 6
28007337 2017
44
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report. 6
28169007 2017
45
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
46
Episodic Ataxias: Clinical and Genetic Features. 6
27667184 2016
47
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
48
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up. 6
24270521 2014
49
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. 6
25274239 2014
50
Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation. 6
23071170 2012

Variations for Episodic Ataxia, Type 2

ClinVar genetic disease variations for Episodic Ataxia, Type 2:

6 (show top 50) (show all 815)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA1A NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) Deletion Pathogenic 476244 rs1555755909 GRCh37: 19:13409518-13409543
GRCh38: 19:13298704-13298729
2 CACNA1A NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter) SNV Pathogenic 476236 rs1555759066 GRCh37: 19:13419310-13419310
GRCh38: 19:13308496-13308496
3 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 GRCh37: 19:13346033-13346033
GRCh38: 19:13235219-13235219
4 CACNA1A NM_001127222.2(CACNA1A):c.1082+1G>A SNV Pathogenic 476232 rs1272886269 GRCh37: 19:13446619-13446619
GRCh38: 19:13335805-13335805
5 CACNA1A NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs) Deletion Pathogenic 476235 rs1555762908 GRCh37: 19:13428042-13428042
GRCh38: 19:13317228-13317228
6 CACNA1A NM_001127222.2(CACNA1A):c.4950+1G>T SNV Pathogenic 567724 rs1568457080 GRCh37: 19:13355995-13355995
GRCh38: 19:13245181-13245181
7 CACNA1A NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter) SNV Pathogenic 476259 rs1555743942 GRCh37: 19:13368328-13368328
GRCh38: 19:13257514-13257514
8 CACNA1A NM_001127222.2(CACNA1A):c.3692+1G>T SNV Pathogenic 562220 rs1315533129 GRCh37: 19:13395881-13395881
GRCh38: 19:13285067-13285067
9 CACNA1A NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter) SNV Pathogenic 565995 rs1568470104 GRCh37: 19:13370475-13370475
GRCh38: 19:13259661-13259661
10 CACNA1A NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del Deletion Pathogenic 560724 rs1568440440 GRCh37: 19:13339581-13339582
GRCh38: 19:13228767-13228768
11 CACNA1A NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs) Duplication Pathogenic 580312 rs1568528298 GRCh37: 19:13428068-13428069
GRCh38: 19:13317254-13317255
12 CACNA1A NC_000019.10:g.(?_13359586)_(13359819_?)del Deletion Pathogenic 583770 GRCh37: 19:13470400-13470633
GRCh38: 19:13359586-13359819
13 CACNA1A NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter) SNV Pathogenic 617754 rs774224202 GRCh37: 19:13387922-13387922
GRCh38: 19:13277108-13277108
14 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic 8507 rs121909324 GRCh37: 19:13366031-13366031
GRCh38: 19:13255217-13255217
15 CACNA1A NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs) Deletion Pathogenic 644525 rs757953057 GRCh37: 19:13397338-13397338
GRCh38: 19:13286524-13286524
16 CACNA1A NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter) SNV Pathogenic 645463 rs1600139005 GRCh37: 19:13346041-13346041
GRCh38: 19:13235227-13235227
17 CACNA1A NC_000019.10:g.(?_13275830)_(13277148_?)del Deletion Pathogenic 652963 GRCh37: 19:13386644-13387962
GRCh38: 19:13275830-13277148
18 CACNA1A NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter) SNV Pathogenic 650263 rs886042230 GRCh37: 19:13482541-13482541
GRCh38: 19:13371727-13371727
19 CACNA1A NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs) Deletion Pathogenic 803531 rs1600242882 GRCh37: 19:13395996-13395996
GRCh38: 19:13285182-13285182
20 CACNA1A NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val) SNV Pathogenic 803532 rs1568514116 GRCh37: 19:13414401-13414401
GRCh38: 19:13303587-13303587
21 CACNA1A NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) SNV Pathogenic 835237 GRCh37: 19:13423516-13423516
GRCh38: 19:13312702-13312702
22 CACNA1A NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) Deletion Pathogenic 837522 GRCh37: 19:13423504-13423504
GRCh38: 19:13312690-13312690
23 CACNA1A NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs) Deletion Pathogenic 839990 GRCh37: 19:13410090-13410090
GRCh38: 19:13299276-13299276
24 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 GRCh37: 19:13346033-13346033
GRCh38: 19:13235219-13235219
25 CACNA1A NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter) SNV Pathogenic 848756 GRCh37: 19:13419267-13419267
GRCh38: 19:13308453-13308453
26 CACNA1A NM_001127222.2(CACNA1A):c.5529-1231C>T SNV Pathogenic 857862 GRCh37: 19:13339572-13339572
GRCh38: 19:13228758-13228758
27 CACNA1A NM_001127222.2(CACNA1A):c.1914-10_2172+10del Deletion Pathogenic 956660 GRCh37: 19:13414350-13418678
GRCh38: 19:13303536-13307864
28 CACNA1A NM_001127222.2(CACNA1A):c.3089+1G>A SNV Pathogenic 961055 GRCh37: 19:13409357-13409357
GRCh38: 19:13298543-13298543
29 CACNA1A NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs) Deletion Pathogenic 969408 GRCh37: 19:13395981-13395984
GRCh38: 19:13285167-13285170
30 CACNA1A NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) SNV Pathogenic 545691 rs1555773764 GRCh37: 19:13470563-13470563
GRCh38: 19:13359749-13359749
31 CACNA1A NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) Deletion Pathogenic 446903 rs1555762855 GRCh37: 19:13427960-13427981
GRCh38: 19:13317146-13317167
32 CACNA1A NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) SNV Pathogenic 68432 rs121908247 GRCh37: 19:13346507-13346507
GRCh38: 19:13235693-13235693
33 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 GRCh37: 19:13414398-13414398
GRCh38: 19:13303584-13303584
34 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
35 CACNA1A NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) SNV Pathogenic 68434 rs121908243 GRCh37: 19:13346463-13346463
GRCh38: 19:13235649-13235649
36 CACNA1A NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter) SNV Pathogenic 583270 rs779221807 GRCh37: 19:13323018-13323018
GRCh38: 19:13212204-13212204
37 CACNA1A NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) Deletion Pathogenic 420056 rs1064794262 GRCh37: 19:13414645-13414646
GRCh38: 19:13303831-13303832
38 CACNA1A NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) SNV Pathogenic 8498 rs121908233 GRCh37: 19:13368288-13368288
GRCh38: 19:13257474-13257474
39 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 GRCh37: 19:13414691-13414691
GRCh38: 19:13303877-13303877
40 CACNA1A NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) SNV Pathogenic 195935 rs794727411 GRCh37: 19:13372340-13372340
GRCh38: 19:13261526-13261526
41 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
42 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 GRCh37: 19:13414691-13414691
GRCh38: 19:13303877-13303877
43 CACNA1A NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter) SNV Pathogenic 808476 rs1600273534 GRCh37: 19:13409896-13409896
GRCh38: 19:13299082-13299082
44 CACNA1A NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs) Deletion Pathogenic 434556 rs746790849 GRCh37: 19:13397459-13397459
GRCh38: 19:13286645-13286645
45 CACNA1A NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) SNV Pathogenic 545691 rs1555773764 GRCh37: 19:13470563-13470563
GRCh38: 19:13359749-13359749
46 CACNA1A NM_001127222.2(CACNA1A):c.4089+2T>G SNV Pathogenic 981625 GRCh37: 19:13373546-13373546
GRCh38: 19:13262732-13262732
47 CACNA1A NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs) Deletion Pathogenic 974623 GRCh37: 19:13368214-13368215
GRCh38: 19:13257400-13257401
48 CACNA1A NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) SNV Pathogenic 216896 rs863224852 GRCh37: 19:13470494-13470494
GRCh38: 19:13359680-13359680
49 CACNA1A NM_001127222.2(CACNA1A):c.5529-1268C>A SNV Pathogenic 954141 GRCh37: 19:13339609-13339609
GRCh38: 19:13228795-13228795
50 CACNA1A NM_001127222.2(CACNA1A):c.4389-1G>C SNV Pathogenic 953868 GRCh37: 19:13368366-13368366
GRCh38: 19:13257552-13257552

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

72 (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 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.51 SCN1A ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E
2
Show member pathways
13.35 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
3
Show member pathways
13.27 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
4
Show member pathways
13.02 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
5
Show member pathways
12.93 SCN1A ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E
6
Show member pathways
12.87 KCNN3 KCNMA1 KCNC3 KCNA1 CACNB4 CACNA2D2
7
Show member pathways
12.86 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
8
Show member pathways
12.86 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
9
Show member pathways
12.84 KCNN3 KCNMA1 ITPR1 CACNA1S ATP1A2
10
Show member pathways
12.82 SCN1A ITPR1 CACNB4 CACNA2D2 CACNA1S ATP1A2
11
Show member pathways
12.81 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
12
Show member pathways
12.77 PSMC4 ITPR1 CAV2 CACNA1S CACNA1B
13 12.73 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
14
Show member pathways
12.72 SCN1A ITPR1 CACNA1S CACNA1B CACNA1A
15
Show member pathways
12.63 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
16
Show member pathways
12.5 ITPR1 CACNA1S CACNA1E CACNA1B CACNA1A
17
Show member pathways
12.49 ITPR1 CACNA1S CACNA1B CACNA1A
18
Show member pathways
12.47 ITPR1 CACNA2D2 CACNA1S CACNA1B
19
Show member pathways
12.47 KCNMA1 ITPR1 CACNB4 CACNA2D2 CACNA1S ATP1A2
20
Show member pathways
12.46 KCNMA1 ITPR1 CACNB4 CACNA2D2 CACNA1S
21 12.35 ITPR1 CACNA1S CACNA1E CACNA1B CACNA1A
22
Show member pathways
12.31 ITPR1 CACNA2D2 CACNA1E CACNA1A
23
Show member pathways
12.23 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
24
Show member pathways
12.1 KCNN3 KCNMA1 KCNC3 KCNA1
25 12.03 SPTBN2 PSMC4 KCNC3 ITPR1 CACNA1A
26
Show member pathways
11.97 CACNA1B CACNA1A ATP1A2
27 11.96 ITPR1 CACNA1S CACNA1B CACNA1A
28
Show member pathways
11.95 CACNA1S CACNA1B ATP1A2
29 11.95 PSMC4 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
30
Show member pathways
11.82 CACNA1E CACNA1B CACNA1A
31 11.81 CACNB4 CACNA2D2 CACNA1S ATP1A2
32
Show member pathways
11.81 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
33
Show member pathways
11.72 SCN1A CACNB4 CACNA2D2 CACNA1S
34 11.66 KCNMA1 ITPR1 CACNA1S
35 11.64 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
36 11.62 KCNN3 ITPR1 CACNA1S
37 11.58 KCNC3 KCNA1 ITPR1 CACNB4 CACNA1S CACNA1E
38 11.41 CACNB4 CACNA1S CACNA1E CACNA1B CACNA1A
39 11.2 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
40 10.77 CACNA1E CACNA1B CACNA1A

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 integral component of membrane GO:0016021 10.25 SCN1A KCNN3 KCNMA1 KCNC3 KCNA1 ITPR1
2 plasma membrane GO:0005886 10.1 SCN1A KCNN3 KCNMA1 KCNC3 KCNA1 ITPR1
3 presynapse GO:0098793 9.67 SPTBN2 KCNA1 CACNA1B CACNA1A
4 voltage-gated potassium channel complex GO:0008076 9.63 KCNMA1 KCNC3 KCNA1
5 neuronal cell body GO:0043025 9.63 SPTBN2 SCN1A KCNN3 KCNA1 CACNA1A ATP1A2
6 caveola GO:0005901 9.58 KCNMA1 CAV2 ATP1A2
7 synapse GO:0045202 9.56 PSMC4 KCNC3 KCNA1 CACNB4 CACNA1E CACNA1B
8 T-tubule GO:0030315 9.5 SCN1A CACNA1S ATP1A2
9 voltage-gated calcium channel complex GO:0005891 9.1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.02 SCN1A PSMC4 KCNMA1 KCNC3 KCNA1 ITPR1
2 ion transmembrane transport GO:0034220 9.95 SCN1A KCNMA1 KCNC3 ITPR1 CACNA1A ATP1A2
3 chemical synaptic transmission GO:0007268 9.91 KCNA1 CACNB4 CACNA1E CACNA1B CACNA1A
4 potassium ion transport GO:0006813 9.85 KCNN3 KCNMA1 KCNC3 KCNA1 ATP1A2
5 potassium ion transmembrane transport GO:0071805 9.83 KCNN3 KCNMA1 KCNC3 KCNA1 ATP1A2
6 regulation of insulin secretion GO:0050796 9.8 ITPR1 CACNA2D2 CACNA1E CACNA1A
7 calcium ion transport GO:0006816 9.8 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
8 ion transport GO:0006811 9.77 SCN1A KCNN3 KCNMA1 KCNC3 KCNA1 ITPR1
9 regulation of membrane potential GO:0042391 9.75 SCN1A KCNMA1 KCNA1
10 cation transmembrane transport GO:0098655 9.71 SCN1A CACNA1A ATP1A2
11 calcium ion import GO:0070509 9.71 CACNA1S CACNA1E CACNA1B CACNA1A
12 cardiac conduction GO:0061337 9.7 CACNB4 CACNA2D2 CACNA1S
13 calcium ion transmembrane transport GO:0070588 9.7 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
14 membrane depolarization GO:0051899 9.67 CACNB4 CACNA1E CACNA1B CACNA1A
15 regulation of muscle contraction GO:0006937 9.58 KCNA1 ATP1A2
16 response to amyloid-beta GO:1904645 9.57 CACNA1B CACNA1A
17 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.56 SCN1A KCNA1
18 cellular potassium ion homeostasis GO:0030007 9.55 KCNMA1 ATP1A2
19 regulation of ion transmembrane transport GO:0034765 9.32 SCN1A KCNMA1 KCNC3 KCNA1 CACNB4 CACNA2D2

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 9.73 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B CACNA1A
2 calcium channel activity GO:0005262 9.7 ITPR1 CACNB4 CACNA2D2 CACNA1S CACNA1E CACNA1B
3 high voltage-gated calcium channel activity GO:0008331 9.62 CACNB4 CACNA1S CACNA1B CACNA1A
4 potassium channel activity GO:0005267 9.61 KCNMA1 KCNC3 KCNA1
5 ion channel activity GO:0005216 9.61 SCN1A KCNMA1 KCNC3 KCNA1 ITPR1 CACNA1S
6 voltage-gated potassium channel activity GO:0005249 9.58 KCNMA1 KCNC3 KCNA1
7 cation channel activity GO:0005261 9.54 SCN1A CACNA1B CACNA1A
8 calcium-activated potassium channel activity GO:0015269 9.46 KCNN3 KCNMA1
9 voltage-gated ion channel activity GO:0005244 9.32 SCN1A KCNMA1 KCNC3 KCNA1 CACNB4 CACNA2D2

Sources for Episodic Ataxia, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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