EA
MCID: EPS003
MIFTS: 48

Episodic Ataxia (EA)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia

MalaCards integrated aliases for Episodic Ataxia:

Name: Episodic Ataxia 12 54 26 30 6 45 15 74
Isaacs Syndrome 12 77 38 17 74
Acquired Neuromyotonia 54 60 74
Neuromyotonia 54 55 56
Continuous Muscle Fiber Activity Syndrome 54 60
Peripheral Nerve Hyperexcitability 54 60
Quantal Squander Syndrome 54 60
Isaac-Mertens Syndrome 54 60
Isaacs' Syndrome 54 55
Isaac Syndrome 54 60
Isaac's-Merten's Syndrome 54
Episodic Ataxia Syndrome 54
Episodic Ataxias 38
Ea Syndrome 54
Ea 26

Characteristics:

Orphanet epidemiological data:

60
isaac syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:963
MeSH 45 C580065
ICD10 via Orphanet 35 G71.1
UMLS via Orphanet 75 C0242287 C0751919
Orphanet 60 ORPHA84142

Summaries for Episodic Ataxia

NINDS : 55 Issacs' syndrome (also known as neuromyotonia, Isaacs-Mertens syndrome, continuous muscle fiber activity syndrome, and quantal squander syndrome) is a rare neuromuscular disorder caused by hyperexcitability and continuous firing of the peripheral nerve axons that activate muscle fibers. Symptoms, which include progressive muscle stiffness, continuously contracting or twitching muscles (myokymia), cramping, increased sweating, and delayed muscle relaxation, occur even during sleep or when individuals are under general anesthesia. Many people also develop weakened reflexes and muscle pain, but numbness is relatively uncommon. In most people with Issacs' syndrome, stiffness is most prominent in limb and trunk muscles, although symptoms can be limited to cranial muscles. Speech and breathing may be affected if pharyngeal or laryngeal muscles are involved. Onset is between ages 15 and 60, with most individuals experiencing symptoms before age 40. There are hereditary and acquired (occurring from unknown causes) forms of the disorder. The acquired form occasionally develops in association with peripheral neuropathies or after radiation treatment, but more often is caused by an autoimmune condition. Autoimmune-mediated Issacs' syndrome is typically caused by antibodies that bind to potassium channels on the motor nerve. Issacs' syndrome is only one of several neurological conditions that can be caused by potassium channel antibodies.

MalaCards based summary : Episodic Ataxia, also known as isaacs syndrome, is related to episodic ataxia, type 2 and episodic ataxia, type 1, and has symptoms including ataxia, muscle weakness and gait ataxia. An important gene associated with Episodic Ataxia is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are MAPK signaling pathway and Calcium signaling pathway. The drugs 4-Aminopyridine and Potassium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and testes, and related phenotypes are hyperhidrosis and eeg abnormality

Disease Ontology : 12 A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.

Genetics Home Reference : 26 Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.

NIH Rare Diseases : 54 Episodic ataxia refers to a group of conditions that affect the central nervous system. It affects specific nerve fibers that carry messages to and from the brain in order to control body movement. The condition causes episodes of poor coordination and balance (ataxia). Episodes may last from a few seconds to several hours. During an episode, affected people may experience dizziness; nausea; vomiting; migraine headaches; impaired vision; slurred speech; and/or ringing in the ears (tinnitus). An attack may also cause seizures, muscle weakness, and/or paralysis of one side of the body (hemiplegia). Age of onset, symptoms and severity can vary. Some people have several attacks per day, while others may have one or two per year. Episodic ataxia may be caused by a mutation in any of several genes and is inherited in an autosomal dominant manner. In some cases, the genetic cause is unknown. Treatment may include medication that reduces or eliminates symptoms. In some cases, symptoms improve or go away on their own. At least 8 types of episodic ataxia have been recognized (referred to as types 1 through 8), which are distinguished based on their age of onset, features, and/or genetic cause. 

Wikipedia : 77 Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular... more...

Related Diseases for Episodic Ataxia

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 12.8
2 episodic ataxia, type 1 12.7
3 episodic ataxia, type 6 12.6
4 episodic ataxia, type 4 12.5
5 episodic ataxia, type 5 12.5
6 episodic ataxia, type 7 12.5
7 episodic ataxia, type 3 12.5
8 episodic ataxia, type 8 12.5
9 ocular neuromyotonia 12.3
10 esophageal atresia/tracheoesophageal fistula 12.0
11 pseudomyotonia 11.5
12 dystonia 9 11.5
13 congenital myasthenic syndrome with episodic apnea 11.4
14 schwartz-jampel syndrome, type 1 11.4
15 paraneoplastic syndromes 11.4
16 autosomal dominant cerebellar ataxia 11.3
17 familial hemiplegic migraine 11.3
18 cramp-fasciculation syndrome 11.2
19 neuropathy, hereditary sensory and autonomic, type iia 11.1
20 myasthenic syndrome, congenital, 6, presynaptic 11.1
21 neuromyotonia and axonal neuropathy, autosomal recessive 11.1
22 morvan's fibrillary chorea 11.1
23 paraneoplastic neurologic disorders 11.1
24 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
25 paroxysmal exertion-induced dyskinesia 10.9
26 esterase c 10.5
27 tracheoesophageal fistula with or without esophageal atresia 10.4
28 esophageal atresia 10.4
29 axonal neuropathy 10.3
30 epilepsy 10.3
31 ataxia and polyneuropathy, adult-onset 10.2
32 hemiplegic migraine 10.2
33 tracheoesophageal fistula 10.2
34 atherosclerosis susceptibility 10.1
35 distal trisomy 11q 10.1
36 spinocerebellar ataxia 6 10.1
37 coccidiosis 10.1
38 glioma 10.0
39 pfeiffer syndrome 10.0
40 leukemia 10.0
41 amenorrhea 10.0
42 lipid metabolism disorder 10.0
43 hemiplegia 10.0
44 myasthenia gravis 10.0
45 thymoma 10.0
46 myasthenia gravis congenital 10.0
47 strabismus 10.0
48 nasopharyngeal carcinoma 10.0
49 partial third-nerve palsy 10.0
50 neuropathy - hereditary 10.0

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



Diseases related to Episodic Ataxia

Symptoms & Phenotypes for Episodic Ataxia

Human phenotypes related to Episodic Ataxia:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
2 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
3 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
4 muscle stiffness 60 33 frequent (33%) Frequent (79-30%) HP:0003552
5 fasciculations 60 33 frequent (33%) Frequent (79-30%) HP:0002380
6 muscle fibrillation 60 33 frequent (33%) Frequent (79-30%) HP:0010546
7 calf muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008981
8 emg: myokymic discharges 60 33 frequent (33%) Frequent (79-30%) HP:0100288
9 muscle spasm 33 frequent (33%) HP:0003394
10 distal sensory impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002936
11 muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0001324
12 muscle cramps 60 Frequent (79-30%)
13 myokymia 60 Frequent (79-30%)

UMLS symptoms related to Episodic Ataxia:


ataxia, muscle weakness, gait ataxia, myalgia, dysdiadochokinesis, myokymia, ataxia, truncal, cerebellar ataxia, muscular fasciculation, muscle cramp, muscle rigidity, muscle spasticity, neuralgia, muscular stiffness

Drugs & Therapeutics for Episodic Ataxia

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


# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
2 Characteristics of Episodic Ataxia Syndrome Unknown status NCT00266760
3 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
4 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Screening and Natural History: Primary Lateral Sclerosis and Related Disorders Active, not recruiting NCT00015444

Search NIH Clinical Center for Episodic Ataxia

Cochrane evidence based reviews: episodic ataxia

Genetic Tests for Episodic Ataxia

Genetic tests related to Episodic Ataxia:

# Genetic test Affiliating Genes
1 Episodic Ataxia 30

Anatomical Context for Episodic Ataxia

MalaCards organs/tissues related to Episodic Ataxia:

42
Brain, Skin, Testes, Eye

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 260)
# Title Authors Year
1
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. ( 30607796 )
2019
2
Episodic ataxia in CASPR2 autoimmunity. ( 30697586 )
2019
3
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. ( 30881862 )
2019
4
A novel mutation in SLC1A3 causes episodic ataxia. ( 29208948 )
2018
5
Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature. ( 29266039 )
2018
6
A Novel CACNA1A Nonsense Variant [c.4054C&amp;gt;T (p.Arg1352<sup>a88</sup>)] Causing Episodic Ataxia Type 2. ( 29713557 )
2018
7
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. ( 29497979 )
2018
8
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. ( 29442233 )
2018
9
Hypomorphic citrullinaemia due to mutated <i>ASS1</i> with episodic ataxia. ( 29695388 )
2018
10
Episodic ataxia in a child with senataxin mutation. ( 29766955 )
2018
11
Episodic ataxia type 2 characterized by recurrent dizziness/vertigo: a report of four cases. ( 29883219 )
2018
12
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I. ( 30140249 )
2018
13
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. ( 30165711 )
2018
14
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. ( 30279196 )
2018
15
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity. ( 30314295 )
2018
16
Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report. ( 29894344 )
2018
17
Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma. ( 30158161 )
2018
18
Isaacs syndrome: A slow potassium channelopathy caused by autoantibodies? ( 29554577 )
2018
19
Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation. ( 29709933 )
2018
20
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
21
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
22
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
23
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
24
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
25
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing. ( 28216637 )
2017
26
Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. ( 29253853 )
2017
27
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
28
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. ( 28566750 )
2017
29
Genetic Variants Associated with Episodic Ataxia in Korea. ( 29062094 )
2017
30
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
31
Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis. ( 28638854 )
2017
32
Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype. ( 30363417 )
2017
33
Isaacs' syndrome and Hodgkin lymphoma: a rare association. ( 27509879 )
2017
34
Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome. ( 28241332 )
2017
35
Isaacs syndrome with CASPR2 antibody: A series of three cases. ( 28438465 )
2017
36
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. ( 26645390 )
2016
37
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant. ( 27260834 )
2016
38
Episodic ataxia associated with a de novo SCN2A mutation. ( 27328862 )
2016
39
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. ( 27477325 )
2016
40
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. ( 27871455 )
2016
41
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
42
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. ( 27271339 )
2016
43
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. ( 27733563 )
2016
44
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
45
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
46
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels. ( 26778656 )
2016
47
Late-onset episodic ataxia associated with SLC1A3 mutation. ( 27829685 )
2016
48
Pearls &amp;amp; Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
49
Endoscopic treatment for esophageal varices complicated by Isaacs' syndrome involving difficulty with conventional sedation. ( 26862027 )
2016
50
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. ( 25566820 )
2015

Variations for Episodic Ataxia

ClinVar genetic disease variations for Episodic Ataxia:

6 (show top 50) (show all 546)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
2 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
3 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Benign/Likely benign rs556761275 GRCh37 Chromosome 2, 152695629: 152695629
4 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Benign/Likely benign rs556761275 GRCh38 Chromosome 2, 151839115: 151839115
5 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh37 Chromosome 12, 5022041: 5022041
6 KCNA1 NM_000217.3(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh38 Chromosome 12, 4912875: 4912875
7 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
8 KCNA1 NM_000217.3(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
9 SLC1A3 NM_004172.4(SLC1A3): c.28A> G (p.Lys10Glu) single nucleotide variant Uncertain significance rs754763002 GRCh37 Chromosome 5, 36608553: 36608553
10 SLC1A3 NM_004172.4(SLC1A3): c.28A> G (p.Lys10Glu) single nucleotide variant Uncertain significance rs754763002 GRCh38 Chromosome 5, 36608451: 36608451
11 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
12 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
13 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
14 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
15 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742
16 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh38 Chromosome 2, 165354232: 165354232
17 KCNA1 NM_000217.3(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh37 Chromosome 12, 5021228: 5021228
18 KCNA1 NM_000217.3(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh38 Chromosome 12, 4912062: 4912062
19 KCNA1 NM_000217.3(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh37 Chromosome 12, 5021348: 5021348
20 KCNA1 NM_000217.3(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh38 Chromosome 12, 4912182: 4912182
21 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh37 Chromosome 2, 152698480: 152698480
22 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh38 Chromosome 2, 151841966: 151841966
23 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh37 Chromosome 2, 152695896: 152695896
24 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh38 Chromosome 2, 151839382: 151839382
25 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh37 Chromosome 2, 152717331: 152717331
26 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh38 Chromosome 2, 151860817: 151860817
27 KCNA1 NM_000217.3(KCNA1): c.1440T> A (p.Thr480=) single nucleotide variant Benign rs4766309 GRCh37 Chromosome 12, 5021984: 5021984
28 KCNA1 NM_000217.3(KCNA1): c.1440T> A (p.Thr480=) single nucleotide variant Benign rs4766309 GRCh38 Chromosome 12, 4912818: 4912818
29 SLC1A3 NM_004172.4(SLC1A3): c.657G> C (p.Glu219Asp) single nucleotide variant Benign rs2032892 GRCh37 Chromosome 5, 36677083: 36677083
30 SLC1A3 NM_004172.4(SLC1A3): c.657G> C (p.Glu219Asp) single nucleotide variant Benign rs2032892 GRCh38 Chromosome 5, 36676981: 36676981
31 CACNB4 NM_000726.4(CACNB4): c.599-15G> A single nucleotide variant Benign/Likely benign rs41270209 GRCh37 Chromosome 2, 152727390: 152727390
32 CACNB4 NM_000726.4(CACNB4): c.599-15G> A single nucleotide variant Benign/Likely benign rs41270209 GRCh38 Chromosome 2, 151870876: 151870876
33 CACNB4 NM_000726.4(CACNB4): c.1413G> A (p.Arg471=) single nucleotide variant Benign/Likely benign rs1805029 GRCh37 Chromosome 2, 152695783: 152695783
34 CACNB4 NM_000726.4(CACNB4): c.1413G> A (p.Arg471=) single nucleotide variant Benign/Likely benign rs1805029 GRCh38 Chromosome 2, 151839269: 151839269
35 CACNB4 NM_000726.4(CACNB4): c.-19-6G> T single nucleotide variant Benign rs143675846 GRCh37 Chromosome 2, 152955550: 152955550
36 CACNB4 NM_000726.4(CACNB4): c.-19-6G> T single nucleotide variant Benign rs143675846 GRCh38 Chromosome 2, 152099036: 152099036
37 CACNB4 NM_000726.4(CACNB4): c.*5863T> G single nucleotide variant Uncertain significance rs886054951 GRCh38 Chromosome 2, 151833256: 151833256
38 CACNB4 NM_000726.4(CACNB4): c.*5863T> G single nucleotide variant Uncertain significance rs886054951 GRCh37 Chromosome 2, 152689770: 152689770
39 CACNB4 NM_000726.4(CACNB4): c.*5487T> C single nucleotide variant Uncertain significance rs111700454 GRCh38 Chromosome 2, 151833632: 151833632
40 CACNB4 NM_000726.4(CACNB4): c.*5487T> C single nucleotide variant Uncertain significance rs111700454 GRCh37 Chromosome 2, 152690146: 152690146
41 CACNB4 NM_000726.4(CACNB4): c.*5433A> G single nucleotide variant Likely benign rs563567053 GRCh38 Chromosome 2, 151833686: 151833686
42 CACNB4 NM_000726.4(CACNB4): c.*5433A> G single nucleotide variant Likely benign rs563567053 GRCh37 Chromosome 2, 152690200: 152690200
43 CACNB4 NM_000726.4(CACNB4): c.*5385C> T single nucleotide variant Benign rs1568673 GRCh38 Chromosome 2, 151833734: 151833734
44 CACNB4 NM_000726.4(CACNB4): c.*5385C> T single nucleotide variant Benign rs1568673 GRCh37 Chromosome 2, 152690248: 152690248
45 CACNB4 NM_000726.4(CACNB4): c.*5029T> C single nucleotide variant Benign rs16830412 GRCh38 Chromosome 2, 151834090: 151834090
46 CACNB4 NM_000726.4(CACNB4): c.*5029T> C single nucleotide variant Benign rs16830412 GRCh37 Chromosome 2, 152690604: 152690604
47 CACNB4 NM_000726.4(CACNB4): c.*4773A> G single nucleotide variant Likely benign rs113408437 GRCh38 Chromosome 2, 151834346: 151834346
48 CACNB4 NM_000726.4(CACNB4): c.*4773A> G single nucleotide variant Likely benign rs113408437 GRCh37 Chromosome 2, 152690860: 152690860
49 CACNB4 NM_000726.4(CACNB4): c.*4081G> A single nucleotide variant Uncertain significance rs148903851 GRCh38 Chromosome 2, 151835038: 151835038
50 CACNB4 NM_000726.4(CACNB4): c.*4081G> A single nucleotide variant Uncertain significance rs148903851 GRCh37 Chromosome 2, 152691552: 152691552

Copy number variations for Episodic Ataxia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 125253 19 13166657 13166965 Deletion CACNA1A Episodic ataxia syndrome

Expression for Episodic Ataxia

Search GEO for disease gene expression data for Episodic Ataxia.

Pathways for Episodic Ataxia

Pathways related to Episodic Ataxia according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Calcium signaling pathway hsa04020
3 Cardiac muscle contraction hsa04260
4 Synaptic vesicle cycle hsa04721
5 Glutamatergic synapse hsa04724
6 Cholinergic synapse hsa04725
7 GABAergic synapse hsa04727
8 Dopaminergic synapse hsa04728
9 Long-term depression hsa04730

GO Terms for Episodic Ataxia

Sources for Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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