EA
MCID: EPS003
MIFTS: 57

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 53 25 29 6 44 15 73
Isaacs Syndrome 12 76 37 73
Acquired Neuromyotonia 53 59 73
Neuromyotonia 53 54 55
Continuous Muscle Fiber Activity Syndrome 53 59
Peripheral Nerve Hyperexcitability 53 59
Quantal Squander Syndrome 53 59
Isaac-Mertens Syndrome 53 59
Isaacs' Syndrome 53 54
Isaac Syndrome 53 59
Isaac's-Merten's Syndrome 53
Episodic Ataxia Syndrome 53
Episodic Ataxias 37
Ea Syndrome 53
Ea 25

Characteristics:

Orphanet epidemiological data:

59
isaac syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:963
MeSH 44 C580065
Orphanet 59 ORPHA84142
UMLS via Orphanet 74 C0242287 C0751919
ICD10 via Orphanet 34 G71.1

Summaries for Episodic Ataxia

NINDS : 54 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 6, 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 eye, and related phenotypes are hyperhidrosis and muscle weakness

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

Genetics Home Reference : 25 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 : 53 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 : 76 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 192)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 34.4 CACNA1A CACNB4 KCNA1
2 episodic ataxia, type 6 34.1 CACNA1A SLC1A1 SLC1A3
3 episodic ataxia, type 1 33.9 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
4 episodic ataxia, type 7 33.8 CACNA1A EA7 KCNA1
5 autosomal dominant cerebellar ataxia 31.9 CACNA1A FGF14 KCNA1 KCND3
6 hemiplegic migraine 30.5 ATP1A2 CACNA1A PRRT2
7 spinocerebellar ataxia 6 30.3 CACNA1A KCNA1
8 epilepsy 30.3 ATP1A2 CACNA1A CACNB4 PRRT2 SCN2A
9 hemiplegia 30.2 ATP1A2 CACNA1A SLC1A3
10 headache 30.1 ATP1A2 CACNA1A CACNB4
11 hereditary ataxia 29.9 CACNA1A FGF14 KCNA1
12 torticollis 29.9 CACNA1A PRRT2
13 epilepsy, idiopathic generalized 29.8 CACNA1A CACNB4 KCNA1 SCN2A
14 episodic ataxia, type 5 12.5
15 episodic ataxia, type 4 12.4
16 episodic ataxia, type 3 12.3
17 episodic ataxia, type 8 12.3
18 ocular neuromyotonia 12.2
19 esophageal atresia/tracheoesophageal fistula 11.9
20 pseudomyotonia 11.5
21 dystonia 9 11.5
22 congenital myasthenic syndrome with episodic apnea 11.4
23 schwartz-jampel syndrome, type 1 11.4
24 paraneoplastic syndromes 11.4
25 familial hemiplegic migraine 11.2
26 cramp-fasciculation syndrome 11.2
27 neuropathy, hereditary sensory and autonomic, type iia 11.1
28 myasthenic syndrome, congenital, 6, presynaptic 11.1
29 neuromyotonia and axonal neuropathy, autosomal recessive 11.1
30 paraneoplastic neurologic disorders 11.0
31 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
32 paroxysmal exertion-induced dyskinesia 10.9
33 esterase c 10.5
34 neuropathy 10.4
35 tracheoesophageal fistula with or without esophageal atresia 10.4
36 esophageal atresia 10.4
37 axonal neuropathy 10.3
38 sporadic hemiplegic migraine 10.2 ATP1A2 CACNA1A
39 tracheoesophageal fistula 10.2
40 spinocerebellar ataxia 27 10.2 CACNA1A FGF14 KCNA1
41 spinocerebellar ataxia type 19/22 10.2 CACNA1A KCND3
42 benign neonatal seizures 10.2 KCNA1 KCNA2 SCN2A
43 epilepsy, idiopathic generalized 10 10.2 CACNB4 KCNA1 SCN2A
44 ataxia and polyneuropathy, adult-onset 10.1
45 familial or sporadic hemiplegic migraine 10.1 ATP1A2 CACNA1A PRRT2
46 alternating hemiplegia of childhood 10.1 ATP1A2 CACNA1A SLC1A3
47 epilepsy, familial temporal lobe, 3 10.1 KCNAB1 SCN2A
48 dicarboxylic aminoaciduria 10.1 SLC1A1 SLC1A3
49 coccidiosis 10.1
50 benign familial infantile epilepsy 10.1 ATP1A2 PRRT2 SCN2A

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
2 muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0001324
3 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
4 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
5 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
6 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
7 fasciculations 59 32 frequent (33%) Frequent (79-30%) HP:0002380
8 muscle fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0010546
9 calf muscle hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008981
10 distal sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002936
11 myokymia 59 Frequent (79-30%)
12 emg: myokymic discharges 59 Frequent (79-30%)
13 emg 32 frequent (33%) HP:0100288

UMLS symptoms related to Episodic Ataxia:


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

MGI Mouse Phenotypes related to Episodic Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNA2
2 nervous system MP:0003631 9.44 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNA2

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 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 29

Anatomical Context for Episodic Ataxia

MalaCards organs/tissues related to Episodic Ataxia:

41
Brain, Skin, Eye, Prostate, Thyroid, B Cells, Temporal Lobe

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 258)
# Title Authors Year
1
A novel mutation in SLC1A3 causes episodic ataxia. ( 29208948 )
2018
2
Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature. ( 29266039 )
2018
3
A Novel CACNA1A Nonsense Variant [c.4054C&amp;gt;T (p.Arg1352<sup>a88</sup>)] Causing Episodic Ataxia Type 2. ( 29713557 )
2018
4
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. ( 29497979 )
2018
5
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. ( 29442233 )
2018
6
Hypomorphic citrullinaemia due to mutated <i>ASS1</i> with episodic ataxia. ( 29695388 )
2018
7
Episodic ataxia in a child with senataxin mutation. ( 29766955 )
2018
8
Episodic ataxia type 2 characterized by recurrent dizziness/vertigo: a report of four cases. ( 29883219 )
2018
9
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I. ( 30140249 )
2018
10
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. ( 30165711 )
2018
11
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. ( 30279196 )
2018
12
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity. ( 30314295 )
2018
13
Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report. ( 29894344 )
2018
14
Isaacs syndrome: A slow potassium channelopathy caused by autoantibodies? ( 29554577 )
2018
15
Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation. ( 29709933 )
2018
16
Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma. ( 30158161 )
2018
17
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
18
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
19
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
20
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
21
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
22
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing. ( 28216637 )
2017
23
Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. ( 29253853 )
2017
24
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
25
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. ( 28566750 )
2017
26
Genetic Variants Associated with Episodic Ataxia in Korea. ( 29062094 )
2017
27
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
28
Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis. ( 28638854 )
2017
29
Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype. ( 30363417 )
2017
30
Isaacs' syndrome and Hodgkin lymphoma: a rare association. ( 27509879 )
2017
31
Osteopathic Manipulative Treatment in the Management of Isaacs Syndrome. ( 28241332 )
2017
32
Isaacs syndrome with CASPR2 antibody: A series of three cases. ( 28438465 )
2017
33
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. ( 26645390 )
2016
34
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant. ( 27260834 )
2016
35
Episodic ataxia associated with a de novo SCN2A mutation. ( 27328862 )
2016
36
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. ( 27477325 )
2016
37
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. ( 27871455 )
2016
38
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
39
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. ( 27271339 )
2016
40
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. ( 27733563 )
2016
41
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
42
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
43
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels. ( 26778656 )
2016
44
Late-onset episodic ataxia associated with SLC1A3 mutation. ( 27829685 )
2016
45
Pearls &amp;amp; Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
46
Endoscopic treatment for esophageal varices complicated by Isaacs' syndrome involving difficulty with conventional sedation. ( 26862027 )
2016
47
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. ( 25566820 )
2015
48
A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels. ( 26338330 )
2015
49
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. ( 25468264 )
2015
50
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. ( 25659636 )
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 KCNA1 NM_000217.2(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh37 Chromosome 12, 5021228: 5021228
2 KCNA1 NM_000217.2(KCNA1): c.684T> C (p.Cys228=) single nucleotide variant Benign rs1048500 GRCh38 Chromosome 12, 4912062: 4912062
3 KCNA1 NM_000217.2(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh37 Chromosome 12, 5021348: 5021348
4 KCNA1 NM_000217.2(KCNA1): c.804G> C (p.Thr268=) single nucleotide variant Benign rs2227910 GRCh38 Chromosome 12, 4912182: 4912182
5 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh37 Chromosome 2, 152698480: 152698480
6 CACNB4 NM_000726.4(CACNB4): c.1239G> A (p.Leu413=) single nucleotide variant Benign rs1805028 GRCh38 Chromosome 2, 151841966: 151841966
7 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh37 Chromosome 2, 152695896: 152695896
8 CACNB4 NM_000726.4(CACNB4): c.1303-3T> C single nucleotide variant Benign/Likely benign rs143442080 GRCh38 Chromosome 2, 151839382: 151839382
9 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh37 Chromosome 2, 152717331: 152717331
10 CACNB4 NM_000726.4(CACNB4): c.762T> A (p.Ile254=) single nucleotide variant Benign rs61736804 GRCh38 Chromosome 2, 151860817: 151860817
11 KCNA1 NM_000217.2(KCNA1): c.1440T> A (p.Thr480=) single nucleotide variant Benign rs4766309 GRCh37 Chromosome 12, 5021984: 5021984
12 KCNA1 NM_000217.2(KCNA1): c.1440T> A (p.Thr480=) single nucleotide variant Benign rs4766309 GRCh38 Chromosome 12, 4912818: 4912818
13 SLC1A3 NM_004172.4(SLC1A3): c.657G> C (p.Glu219Asp) single nucleotide variant Benign rs2032892 GRCh37 Chromosome 5, 36677083: 36677083
14 SLC1A3 NM_004172.4(SLC1A3): c.657G> C (p.Glu219Asp) single nucleotide variant Benign rs2032892 GRCh38 Chromosome 5, 36676981: 36676981
15 CACNB4 NM_000726.4(CACNB4): c.599-15G> A single nucleotide variant Benign/Likely benign rs41270209 GRCh37 Chromosome 2, 152727390: 152727390
16 CACNB4 NM_000726.4(CACNB4): c.599-15G> A single nucleotide variant Benign/Likely benign rs41270209 GRCh38 Chromosome 2, 151870876: 151870876
17 CACNB4 NM_000726.4(CACNB4): c.1413G> A (p.Arg471=) single nucleotide variant Benign/Likely benign rs1805029 GRCh37 Chromosome 2, 152695783: 152695783
18 CACNB4 NM_000726.4(CACNB4): c.1413G> A (p.Arg471=) single nucleotide variant Benign/Likely benign rs1805029 GRCh38 Chromosome 2, 151839269: 151839269
19 CACNB4 NM_000726.4(CACNB4): c.-25G> T single nucleotide variant Benign rs143675846 GRCh37 Chromosome 2, 152955550: 152955550
20 CACNB4 NM_000726.4(CACNB4): c.-25G> T single nucleotide variant Benign rs143675846 GRCh38 Chromosome 2, 152099036: 152099036
21 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
22 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
23 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh37 Chromosome 2, 152695629: 152695629
24 CACNB4 NM_000726.4(CACNB4): c.*4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs556761275 GRCh38 Chromosome 2, 151839115: 151839115
25 KCNA1 NM_000217.2(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh37 Chromosome 12, 5022041: 5022041
26 KCNA1 NM_000217.2(KCNA1): c.*9G> A single nucleotide variant Benign rs4766310 GRCh38 Chromosome 12, 4912875: 4912875
27 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
28 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
29 SLC1A3 NM_004172.4(SLC1A3): c.28A> G (p.Lys10Glu) single nucleotide variant Uncertain significance rs754763002 GRCh37 Chromosome 5, 36608553: 36608553
30 SLC1A3 NM_004172.4(SLC1A3): c.28A> G (p.Lys10Glu) single nucleotide variant Uncertain significance rs754763002 GRCh38 Chromosome 5, 36608451: 36608451
31 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
32 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968
33 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh37 Chromosome 2, 152955518: 152955518
34 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 GRCh38 Chromosome 2, 152099004: 152099004
35 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742
36 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh38 Chromosome 2, 165354232: 165354232
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:

37
# 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

Pathways related to Episodic Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 ATP1A2 CACNB4 FGF14 KCND3 SCN2A SCN4A
2
Show member pathways
12.46 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
3 12.3 SCN2A SCN4A SLC1A1 SLC1A3 SLC1A4
4
Show member pathways
11.72 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
5
Show member pathways
11.64 ATP1A2 CACNA1A SLC1A3
6 11.52 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
7
Show member pathways
11.43 CACNB4 FGF14 SCN2A SCN4A

GO Terms for Episodic Ataxia

Cellular components related to Episodic Ataxia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 CACNA1A KCNA1 KCNA2 KCNA4 KCND3 PRRT2
2 dendrite GO:0030425 9.91 CACNA1A KCNA1 KCNA2 KCND3 SLC1A4
3 neuronal cell body GO:0043025 9.85 CACNA1A KCNA1 KCNAB1 KCND3 SLC1A3 SLC1A4
4 dendritic spine GO:0043197 9.75 ATP1A2 KCNA4 PRRT2
5 perikaryon GO:0043204 9.73 KCNA1 KCNA2 KCNAB1
6 presynaptic membrane GO:0042734 9.7 KCNA1 KCNA2 PRRT2
7 integral component of presynaptic membrane GO:0099056 9.67 KCNA1 KCNA2 SCN2A
8 axon terminus GO:0043679 9.65 KCNA1 KCNA2 PRRT2
9 calyx of Held GO:0044305 9.57 KCNA1 KCNA2
10 voltage-gated sodium channel complex GO:0001518 9.55 SCN2A SCN4A
11 paranode region of axon GO:0033270 9.54 KCNA1 SCN2A
12 axon GO:0030424 9.5 KCNA1 KCNA2 KCNA4 KCNAB1 PRRT2 SCN2A
13 juxtaparanode region of axon GO:0044224 9.43 KCNA1 KCNA2 KCNAB1
14 potassium channel complex GO:0034705 9.33 KCNA1 KCNA2 KCNAB1
15 voltage-gated potassium channel complex GO:0008076 9.02 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
16 integral component of membrane GO:0016021 10.3 ATP1A2 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1
17 plasma membrane GO:0005886 10.2 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4
18 integral component of plasma membrane GO:0005887 10.03 KCNA1 KCNA2 KCNA4 SCN2A SCN4A SLC1A1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
2 ion transmembrane transport GO:0034220 9.88 CACNA1A KCNAB1 NALCN SCN2A
3 chemical synaptic transmission GO:0007268 9.85 CACNA1A CACNB4 KCNA1 SLC1A1 SLC1A3
4 calcium ion transmembrane transport GO:0070588 9.8 CACNA1A CACNB4 NALCN
5 sodium ion transport GO:0006814 9.8 ATP1A2 NALCN SCN2A SCN4A
6 protein homooligomerization GO:0051260 9.8 KCNA1 KCNA2 KCNA4 KCND3 SLC1A1
7 potassium ion transport GO:0006813 9.8 ATP1A2 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
8 potassium ion transmembrane transport GO:0071805 9.8 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3 NALCN
9 ion transport GO:0006811 9.77 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4
10 chloride transmembrane transport GO:1902476 9.75 SLC1A1 SLC1A3 SLC1A4
11 sodium ion transmembrane transport GO:0035725 9.73 NALCN SCN2A SCN4A
12 amino acid transport GO:0006865 9.7 SLC1A1 SLC1A3 SLC1A4
13 neuronal action potential GO:0019228 9.67 KCNA1 KCNA2 SCN2A SCN4A
14 neuromuscular process GO:0050905 9.63 CACNA1A KCNA1
15 membrane depolarization GO:0051899 9.62 CACNA1A CACNB4
16 regulation of muscle contraction GO:0006937 9.61 ATP1A2 KCNA1
17 glutamate secretion GO:0014047 9.61 SLC1A1 SLC1A3
18 L-glutamate transmembrane transport GO:0015813 9.6 SLC1A1 SLC1A3
19 membrane depolarization during action potential GO:0086010 9.59 SCN2A SCN4A
20 membrane repolarization GO:0086009 9.57 ATP1A2 KCND3
21 neurotransmitter uptake GO:0001504 9.55 ATP1A2 SLC1A3
22 L-glutamate import across plasma membrane GO:0098712 9.54 SLC1A1 SLC1A3
23 D-aspartate import across plasma membrane GO:0070779 9.51 SLC1A1 SLC1A3
24 L-glutamate import GO:0051938 9.48 SLC1A1 SLC1A3
25 L-aspartate import across plasma membrane GO:0140009 9.43 SLC1A1 SLC1A3
26 regulation of ion transmembrane transport GO:0034765 9.32 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.73 CACNA1A KCNA1 SCN2A SCN4A
2 symporter activity GO:0015293 9.71 SLC1A1 SLC1A3 SLC1A4
3 amino acid transmembrane transporter activity GO:0015171 9.58 SLC1A1 SLC1A3 SLC1A4
4 voltage-gated sodium channel activity GO:0005248 9.55 SCN2A SCN4A
5 L-glutamate transmembrane transporter activity GO:0005313 9.52 SLC1A1 SLC1A3
6 glutamate binding GO:0016595 9.51 SLC1A1 SLC1A3
7 delayed rectifier potassium channel activity GO:0005251 9.5 KCNA1 KCNA2 KCNA4
8 high voltage-gated calcium channel activity GO:0008331 9.49 CACNA1A CACNB4
9 potassium ion binding GO:0030955 9.48 ATP1A2 KCNA4
10 high-affinity glutamate transmembrane transporter activity GO:0005314 9.46 SLC1A1 SLC1A3
11 potassium channel activity GO:0005267 9.46 KCNA1 KCNA2 KCNA4 KCND3
12 sodium channel activity GO:0005272 9.43 NALCN SCN2A SCN4A
13 glutamate:sodium symporter activity GO:0015501 9.37 SLC1A1 SLC1A3
14 voltage-gated potassium channel activity GO:0005249 9.35 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
15 voltage-gated ion channel activity GO:0005244 9.28 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1 KCND3

Sources for Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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