EA
MCID: EPS003
MIFTS: 60

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 72
Isaacs Syndrome 12 75 37 72
Acquired Neuromyotonia 53 59 72
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
ICD10 via Orphanet 34 G71.1
UMLS via Orphanet 73 C0242287 C0751919
Orphanet 59 ORPHA84142
UMLS 72 C0242287 C0751919 C1720189

Summaries for Episodic Ataxia

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. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.

MalaCards based summary : Episodic Ataxia, also known as isaacs syndrome, is related to episodic ataxia, type 2 and episodic ataxia, type 7, and has symptoms including ataxia, muscle weakness and myalgia. 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, eye and skin, 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.

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.

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.

KEGG : 37
Episodic ataxias (EAs) are a group of rare autosomal-dominant diseases characterized by recurrent, discrete episodes of ataxia, giddiness, and vertigo. EA1 and EA2 are the most widely recognized of the autosomal-dominant EAs and are caused by dysfunction of neuronal voltage-gated ion channels. There are central and peripheral nervous system manifestations in both conditions. The current classification is based on genetics and actually includes seven distinct subtypes. But these variants other than EA1 and EA2 are rare, some only occurring in single families, and gene mutations have not been identified in all. It is quite likely, however, that the number of phenotypes and mutated genes will grow further.

Wikipedia : 75 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
Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 401)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 35.3 KCNA1 CACNB4 CACNA1A
2 episodic ataxia, type 7 35.0 KCNA1 EA7 CACNA1A
3 episodic ataxia, type 6 34.7 SLC1A3 SLC1A1 CACNA1A
4 episodic ataxia, type 1 34.2 KCNAB1 KCNA4 KCNA2 KCNA1 CACNB4 CACNA1A
5 hemiplegic migraine 31.4 PRRT2 CACNA1A ATP1A2
6 spinocerebellar ataxia 6 31.3 KCNA1 CACNA1A
7 migraine with or without aura 1 31.2 SLC1A3 PRRT2 CACNA1A ATP1A2
8 hereditary ataxia 31.1 KCNA1 FGF14 CACNA1A
9 hemiplegia 30.9 SLC1A3 CACNA1A ATP1A2
10 torticollis 30.8 PRRT2 CACNA1A
11 aceruloplasminemia 30.8 KCND3 DARS2 CACNA1A
12 headache 30.7 CACNB4 CACNA1A ATP1A2
13 familial or sporadic hemiplegic migraine 30.7 PRRT2 CACNA1A ATP1A2
14 visual epilepsy 30.7 SCN2A PRRT2 NALCN
15 epilepsy, idiopathic generalized 30.6 SCN2A KCNA1 CACNB4 CACNA1A
16 alternating hemiplegia of childhood 30.5 SLC1A3 CACNA1A ATP1A2
17 benign neonatal seizures 30.4 SCN2A KCNA2 KCNA1
18 spinocerebellar ataxia 27 30.4 KCNA1 FGF14 CACNA1A
19 seizures, benign familial infantile, 3 30.3 SCN2A KCNA1
20 migraine with aura 30.2 PRRT2 CACNA1A ATP1A2
21 epilepsy 30.2 SCN2A PRRT2 CACNB4 CACNA1A ATP1A2
22 episodic kinesigenic dyskinesia 1 30.1 PRRT2 KCNA1
23 episodic ataxia, type 5 12.7
24 episodic ataxia, type 3 12.7
25 episodic ataxia, type 8 12.7
26 episodic ataxia, type 4 12.7
27 hereditary episodic ataxia 12.4
28 ocular neuromyotonia 12.4
29 esophageal atresia/tracheoesophageal fistula 12.4
30 neuromyotonia and axonal neuropathy, autosomal recessive 11.9
31 pseudomyotonia 11.7
32 cramp-fasciculation syndrome 11.7
33 dystonia 9 11.6
34 congenital myasthenic syndrome with episodic apnea 11.5
35 schwartz-jampel syndrome, type 1 11.5
36 familial hemiplegic migraine 11.4
37 autosomal dominant cerebellar ataxia 11.4
38 mandibulofacial dysostosis, guion-almeida type 11.4
39 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
40 neuropathy, hereditary sensory and autonomic, type iia 11.2
41 myasthenic syndrome, congenital, 6, presynaptic 11.2
42 paraneoplastic neurologic disorders 11.2
43 paroxysmal exertion-induced dyskinesia 11.0
44 ataxia and polyneuropathy, adult-onset 11.0
45 sporadic hemiplegic migraine 10.7 CACNA1A ATP1A2
46 pathologic nystagmus 10.6
47 seizures, benign familial neonatal, 1 10.6
48 tracheoesophageal fistula with or without esophageal atresia 10.5
49 esophageal atresia 10.5
50 spinocerebellar ataxia type 19/22 10.5 KCND3 CACNA1A

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

UMLS symptoms related to Episodic Ataxia:


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

MGI Mouse Phenotypes related to Episodic Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNA2
2 nervous system MP:0003631 9.47 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNA2

Drugs & Therapeutics for Episodic Ataxia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 1, Phase 2 504-24-5 1727
2 Potassium Channel Blockers Phase 1, Phase 2
3
Oxaliplatin Approved, Investigational 61825-94-3 5310940 9887054 43805 6857599
4
Paclitaxel Approved, Vet_approved 33069-62-4 36314
5 Cola
6 Albumin-Bound Paclitaxel

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
2 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
3 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
4 Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study Unknown status NCT00266760
5 Screening and Natural History: Primary Lateral Sclerosis and Related Disorders Completed NCT00015444
6 An Observational STudy to Evaluate the EFfectiveness of OnLife® in Improving Chemotherapy-induced peripherAl NeurOpathy in Patients With Colon or Breast Cancer After End of Adjuvant Therapy Completed NCT03065478

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, Eye, Skin, Colon, Breast, Cortex, Cerebellum

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 650)
# Title Authors PMID Year
1
Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. 9 38
16956965 2007
2
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. 9 38
15351427 2004
3
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. 9 38
12799903 2003
4
Kv1.1 channel subunits in the control of neurocardiac function. 38
31250689 2019
5
Paroxysmal movement disorders - practical update on diagnosis and management. 38
31353980 2019
6
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing. 38
31288946 2019
7
Impact of 4-aminopyridine on vestibulo-ocular reflex performance. 38
31270663 2019
8
Spontaneous Remission of Isaacs’ Syndrome 38
31007004 2019
9
Teaching Video NeuroImages: Cold-induced laryngeal pseudomyotonia in Isaacs syndrome. 38
31160414 2019
10
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. 38
30142438 2019
11
What Is Behind Cerebellar Vertigo and Dizziness? 38
30552638 2019
12
Vestibular Migraine: How to Sort it Out and What to Do About it. 38
31094996 2019
13
Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum. 38
30741786 2019
14
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 38
31226716 2019
15
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. 38
30607796 2019
16
Clinical and genetic spectrum of SCN2A-associated episodic ataxia. 38
30928199 2019
17
Cognitive impairment in children with CACNA1A mutations. 38
31115040 2019
18
Waves in Extremities: A Rare Report of Isolated Isaacs' Syndrome. 38
31338264 2019
19
Episodic ataxia: A 20-year diagnostic delay. 38
31047732 2019
20
Episodic ataxia in CASPR2 autoimmunity. 38
30697586 2019
21
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. 38
30501978 2019
22
Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases. 38
29883219 2019
23
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. 38
30881862 2019
24
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature. 38
30063100 2019
25
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 38
31193310 2019
26
Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders. 38
30182858 2019
27
Peripheral nerve hyperexcitability. 38
31307606 2019
28
Autoimmune Channelopathies at Neuromuscular Junction. 38
31156543 2019
29
Ultrasound Stimulation Modulates Voltage-Gated Potassium Currents Associated With Action Potential Shape in Hippocampal CA1 Pyramidal Neurons. 38
31178727 2019
30
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. 38
30165711 2018
31
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. 38
29956301 2018
32
Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report. 38
29894344 2018
33
Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma. 38
30158161 2018
34
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity. 38
30314295 2018
35
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. 38
30279196 2018
36
Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation. 38
29709933 2018
37
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. 38
29497979 2018
38
The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics. 38
29771692 2018
39
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. 38
30055040 2018
40
New CACNA1A deletions are associated to migraine phenotypes. 38
30167989 2018
41
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes. 38
30128325 2018
42
Phenotypes, genotypes, and the management of paroxysmal movement disorders. 38
29600549 2018
43
Episodic ataxia in a child with senataxin mutation. 38
29766955 2018
44
Isaacs syndrome: A slow potassium channelopathy caused by autoantibodies? 38
29554577 2018
45
Whole-exome sequencing for variant discovery in blepharospasm. 38
29770609 2018
46
Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia. 38
29695388 2018
47
[Current Perspective on Voltage-gated Potassium Channel Complex Antibody Associated Diseases]. 38
29632280 2018
48
Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 38
29440566 2018
49
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. 38
29442233 2018
50
An Atypical Rett Syndrome Phenotype Due to a Novel Missense Mutation in CACNA1A. 38
29366381 2018

Variations for Episodic Ataxia

ClinVar genetic disease variations for Episodic Ataxia:

6 (show top 50) (show all 273)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 2:166210742-166210742 2:165354232-165354232
2 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 2:152955482-152955482 2:152098968-152098968
3 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 2:152955518-152955518 2:152099004-152099004
4 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 2:152955521-152955521 2:152099007-152099007
5 SLC1A3 NM_004172.5(SLC1A3): c.212A> G (p.Tyr71Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs573483474 5:36629582-36629582 5:36629480-36629480
6 SLC1A3 NM_004172.5(SLC1A3): c.676C> G (p.Arg226Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201069745 5:36677102-36677102 5:36677000-36677000
7 KCNA1 NM_000217.3(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 12:5022008-5022008 12:4912842-4912842
8 KCNA1 NM_000217.3(KCNA1): c.*234A> T single nucleotide variant Uncertain significance rs886049514 12:5022266-5022266 12:4913100-4913100
9 KCNA1 NM_000217.3(KCNA1): c.*486G> C single nucleotide variant Uncertain significance rs764863360 12:5022518-5022518 12:4913352-4913352
10 KCNA1 NM_000217.3(KCNA1): c.*511A> G single nucleotide variant Uncertain significance rs886049515 12:5022543-5022543 12:4913377-4913377
11 KCNA1 NM_000217.3(KCNA1): c.*724G> A single nucleotide variant Uncertain significance rs886049516 12:5022756-5022756 12:4913590-4913590
12 KCNA1 NM_000217.3(KCNA1): c.*883T> G single nucleotide variant Uncertain significance rs756451969 12:5022915-5022915 12:4913749-4913749
13 KCNA1 NM_000217.3(KCNA1): c.*965A> T single nucleotide variant Uncertain significance rs886049518 12:5022997-5022997 12:4913831-4913831
14 KCNA1 NM_000217.3(KCNA1): c.*1012A> T single nucleotide variant Uncertain significance rs886049519 12:5023044-5023044 12:4913878-4913878
15 KCNA1 NM_000217.3(KCNA1): c.*2278dup duplication Uncertain significance rs397724146 12:5024310-5024310 12:4915144-4915144
16 KCNA1 NM_000217.3(KCNA1): c.*3268C> T single nucleotide variant Uncertain significance rs886049528 12:5025300-5025300 12:4916134-4916134
17 KCNA1 NM_000217.3(KCNA1): c.*3316T> C single nucleotide variant Uncertain significance rs886049529 12:5025348-5025348 12:4916182-4916182
18 KCNA1 NM_000217.3(KCNA1): c.*4152A> G single nucleotide variant Uncertain significance rs886049531 12:5026184-5026184 12:4917018-4917018
19 KCNA1 NM_000217.3(KCNA1): c.*4289T> A single nucleotide variant Uncertain significance rs886049534 12:5026321-5026321 12:4917155-4917155
20 KCNA1 NM_000217.3(KCNA1): c.*4718C> T single nucleotide variant Uncertain significance rs886049536 12:5026750-5026750 12:4917584-4917584
21 KCNA1 NM_000217.3(KCNA1): c.*5139dup duplication Uncertain significance rs753752185 12:5027171-5027171 12:4918005-4918005
22 SLC1A3 NM_001166696.2(SLC1A3): c.-280C> T single nucleotide variant Uncertain significance rs886060542 5:36606653-36606653 5:36606551-36606551
23 SLC1A3 NM_004172.5(SLC1A3): c.79C> T (p.Leu27Phe) single nucleotide variant Uncertain significance rs146939026 5:36608604-36608604 5:36608502-36608502
24 SLC1A3 NM_004172.5(SLC1A3): c.860+9T> C single nucleotide variant Uncertain significance rs886060543 5:36677295-36677295 5:36677193-36677193
25 SLC1A3 NM_004172.5(SLC1A3): c.*313dup duplication Uncertain significance rs886060544 5:36686684-36686684 5:36686582-36686582
26 KCNA1 NM_000217.3(KCNA1): c.-1040G> T single nucleotide variant Uncertain significance rs886049498 12:5019138-5019138 12:4909972-4909972
27 KCNA1 NM_000217.3(KCNA1): c.-968C> T single nucleotide variant Uncertain significance rs886049500 12:5019210-5019210 12:4910044-4910044
28 KCNA1 NM_000217.3(KCNA1): c.-300_-298ACA[3] short repeat Uncertain significance rs886049506 12:5020254-5020256 12:4911088-4911090
29 KCNA1 NM_000217.3(KCNA1): c.412A> C (p.Lys138Gln) single nucleotide variant Uncertain significance rs886049511 12:5020956-5020956 12:4911790-4911790
30 KCNA1 NM_000217.3(KCNA1): c.*2758G> A single nucleotide variant Uncertain significance rs886049525 12:5024790-5024790 12:4915624-4915624
31 KCNA1 NM_000217.3(KCNA1): c.-1034C> T single nucleotide variant Uncertain significance rs886049499 12:5019144-5019144 12:4909978-4909978
32 KCNA1 NM_000217.3(KCNA1): c.-230C> G single nucleotide variant Uncertain significance rs886049507 12:5020315-5020315 12:4911149-4911149
33 KCNA1 NM_000217.3(KCNA1): c.*592C> A single nucleotide variant Uncertain significance rs144000949 12:5022624-5022624 12:4913458-4913458
34 KCNA1 NM_000217.3(KCNA1): c.*1444_*1447CAAA[4] short repeat Uncertain significance rs138257860 12:5023492-5023495 12:4914326-4914329
35 KCNA1 NM_000217.3(KCNA1): c.*2245C> G single nucleotide variant Uncertain significance rs76258625 12:5024277-5024277 12:4915111-4915111
36 KCNA1 NM_000217.3(KCNA1): c.*3185del deletion Uncertain significance rs886049526 12:5025217-5025217 12:4916051-4916051
37 KCNA1 NM_000217.3(KCNA1): c.*3503C> T single nucleotide variant Uncertain significance rs532649581 12:5025535-5025535 12:4916369-4916369
38 KCNA1 NM_000217.3(KCNA1): c.*4303A> T single nucleotide variant Uncertain significance rs886049535 12:5026335-5026335 12:4917169-4917169
39 KCNA1 NM_000217.3(KCNA1): c.*4926G> A single nucleotide variant Uncertain significance rs886049537 12:5026958-5026958 12:4917792-4917792
40 KCNA1 NM_000217.3(KCNA1): c.*5136A> G single nucleotide variant Uncertain significance rs886049540 12:5027168-5027168 12:4918002-4918002
41 KCNA1 NM_000217.3(KCNA1): c.-27C> T single nucleotide variant Uncertain significance rs886049508 12:5020518-5020518 12:4911352-4911352
42 KCNA1 NM_000217.3(KCNA1): c.1364T> A (p.Met455Lys) single nucleotide variant Uncertain significance rs886049512 12:5021908-5021908 12:4912742-4912742
43 KCNA1 NM_000217.3(KCNA1): c.*88G> A single nucleotide variant Uncertain significance rs886049513 12:5022120-5022120 12:4912954-4912954
44 KCNA1 NM_000217.3(KCNA1): c.*804C> A single nucleotide variant Uncertain significance rs886049517 12:5022836-5022836 12:4913670-4913670
45 KCNA1 NM_000217.3(KCNA1): c.*829A> G single nucleotide variant Uncertain significance rs777685914 12:5022861-5022861 12:4913695-4913695
46 KCNA1 NM_000217.3(KCNA1): c.*1504G> A single nucleotide variant Uncertain significance rs770664473 12:5023536-5023536 12:4914370-4914370
47 KCNA1 NM_000217.3(KCNA1): c.*2000C> T single nucleotide variant Uncertain significance rs886049522 12:5024032-5024032 12:4914866-4914866
48 KCNA1 NM_000217.3(KCNA1): c.*3176A> T single nucleotide variant Uncertain significance rs181233186 12:5025208-5025208 12:4916042-4916042
49 KCNA1 NM_000217.3(KCNA1): c.*4903C> G single nucleotide variant Uncertain significance rs760686126 12:5026935-5026935 12:4917769-4917769
50 KCNA1 NM_000217.3(KCNA1): c.*5106C> G single nucleotide variant Uncertain significance rs886049538 12:5027138-5027138 12:4917972-4917972

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
12.46 SLC1A3 SLC1A1 KCND3 KCNAB1 KCNA4 KCNA2
2
Show member pathways
12.45 SCN2A KCND3 FGF14 CACNB4 ATP1A2
3 12.24 SLC1A4 SLC1A3 SLC1A1 SCN2A
4
Show member pathways
11.72 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
5
Show member pathways
11.66 SLC1A3 CACNA1A ATP1A2
6 11.52 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1 CACNB4
7
Show member pathways
11.31 SCN2A FGF14 CACNB4

GO Terms for Episodic Ataxia

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 SLC1A3 PRRT2 KCND3 KCNA4 KCNA2 KCNA1
2 dendrite GO:0030425 9.89 SLC1A4 KCND3 KCNA2 KCNA1 CACNA1A
3 neuronal cell body GO:0043025 9.85 SLC1A4 SLC1A3 KCND3 KCNAB1 KCNA1 CACNA1A
4 axon GO:0030424 9.8 SCN2A PRRT2 KCNAB1 KCNA4 KCNA2 KCNA1
5 dendritic spine GO:0043197 9.74 PRRT2 KCNA4 ATP1A2
6 perikaryon GO:0043204 9.72 KCNAB1 KCNA2 KCNA1
7 presynaptic membrane GO:0042734 9.69 PRRT2 KCNA2 KCNA1
8 integral component of presynaptic membrane GO:0099056 9.65 SCN2A KCNA2 KCNA1
9 axon terminus GO:0043679 9.63 PRRT2 KCNA2 KCNA1
10 calyx of Held GO:0044305 9.56 KCNA2 KCNA1
11 paranode region of axon GO:0033270 9.52 SCN2A KCNA1
12 juxtaparanode region of axon GO:0044224 9.33 KCNAB1 KCNA2 KCNA1
13 potassium channel complex GO:0034705 9.13 KCNAB1 KCNA2 KCNA1
14 voltage-gated potassium channel complex GO:0008076 9.02 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
15 integral component of membrane GO:0016021 10.28 UBR4 SLC1A4 SLC1A3 SLC1A1 SCN2A PRRT2
16 plasma membrane GO:0005886 10.13 UBR4 SLC1A4 SLC1A3 SLC1A1 SCN2A PRRT2
17 integral component of plasma membrane GO:0005887 10.08 SLC1A4 SLC1A3 SLC1A1 SCN2A KCNA4 KCNA2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.9 SLC1A4 SLC1A3 SLC1A1 SCN2A NALCN KCND3
2 ion transmembrane transport GO:0034220 9.87 SCN2A NALCN KCNAB1 CACNA1A
3 chemical synaptic transmission GO:0007268 9.83 SLC1A3 SLC1A1 KCNA1 CACNB4 CACNA1A
4 potassium ion transport GO:0006813 9.8 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1 ATP1A2
5 potassium ion transmembrane transport GO:0071805 9.8 SLC1A3 NALCN KCND3 KCNAB1 KCNA4 KCNA2
6 sodium ion transport GO:0006814 9.79 SCN2A NALCN ATP1A2
7 calcium ion transmembrane transport GO:0070588 9.78 NALCN CACNB4 CACNA1A
8 protein homooligomerization GO:0051260 9.77 SLC1A1 KCND3 KCNA4 KCNA2 KCNA1
9 chloride transmembrane transport GO:1902476 9.73 SLC1A4 SLC1A3 SLC1A1
10 ion transport GO:0006811 9.73 SLC1A3 SLC1A1 SCN2A NALCN KCND3 KCNAB1
11 amino acid transport GO:0006865 9.69 SLC1A4 SLC1A3 SLC1A1
12 neuronal action potential GO:0019228 9.63 SCN2A KCNA2 KCNA1
13 neuromuscular process GO:0050905 9.62 KCNA1 CACNA1A
14 membrane depolarization GO:0051899 9.6 CACNB4 CACNA1A
15 regulation of muscle contraction GO:0006937 9.59 KCNA1 ATP1A2
16 glutamate secretion GO:0014047 9.58 SLC1A3 SLC1A1
17 L-glutamate transmembrane transport GO:0015813 9.58 SLC1A3 SLC1A1
18 membrane repolarization GO:0086009 9.55 KCND3 ATP1A2
19 neurotransmitter uptake GO:0001504 9.54 SLC1A3 ATP1A2
20 L-glutamate import across plasma membrane GO:0098712 9.52 SLC1A3 SLC1A1
21 D-aspartate import across plasma membrane GO:0070779 9.49 SLC1A3 SLC1A1
22 L-glutamate import GO:0051938 9.48 SLC1A3 SLC1A1
23 L-aspartate import across plasma membrane GO:0140009 9.4 SLC1A3 SLC1A1
24 regulation of ion transmembrane transport GO:0034765 9.28 SCN2A NALCN KCND3 KCNAB1 KCNA4 KCNA2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.7 SCN2A KCNA1 CACNA1A
2 symporter activity GO:0015293 9.69 SLC1A4 SLC1A3 SLC1A1
3 L-glutamate transmembrane transporter activity GO:0005313 9.49 SLC1A3 SLC1A1
4 potassium ion binding GO:0030955 9.48 KCNA4 ATP1A2
5 high voltage-gated calcium channel activity GO:0008331 9.46 CACNB4 CACNA1A
6 potassium channel activity GO:0005267 9.46 KCND3 KCNA4 KCNA2 KCNA1
7 glutamate binding GO:0016595 9.43 SLC1A3 SLC1A1
8 delayed rectifier potassium channel activity GO:0005251 9.43 KCNA4 KCNA2 KCNA1
9 high-affinity glutamate transmembrane transporter activity GO:0005314 9.4 SLC1A3 SLC1A1
10 voltage-gated potassium channel activity GO:0005249 9.35 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
11 glutamate:sodium symporter activity GO:0015501 9.32 SLC1A3 SLC1A1
12 voltage-gated ion channel activity GO:0005244 9.23 SCN2A NALCN KCND3 KCNAB1 KCNA4 KCNA2
13 amino acid transmembrane transporter activity GO:0015171 9.07 SLC1A4

Sources for Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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