MCID: EPS003
MIFTS: 57

Episodic Ataxia

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Episodic Ataxia

MalaCards integrated aliases for Episodic Ataxia:

Name: Episodic Ataxia 12 49 24 28 41 14 69
Isaacs Syndrome 12 72 36 69
Acquired Neuromyotonia 49 55 69
Neuromyotonia 49 50 51
Continuous Muscle Fiber Activity Syndrome 49 55
Peripheral Nerve Hyperexcitability 49 55
Quantal Squander Syndrome 49 55
Isaac-Mertens Syndrome 49 55
Isaacs' Syndrome 49 50
Isaac Syndrome 49 55
Isaac's-Merten's Syndrome 49
Episodic Ataxia Syndrome 49
Episodic Ataxias 36
Ea Syndrome 49
Ea 24

Characteristics:

Orphanet epidemiological data:

55
isaac syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:963
MeSH 41 C580065
SNOMED-CT 64 421455009
Orphanet 55 ORPHA84142
UMLS via Orphanet 70 C0242287 C0751919
ICD10 via Orphanet 33 G71.1

Summaries for Episodic Ataxia

NINDS : 50 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 7, and has symptoms including hyperhidrosis, weight loss and eeg abnormality. An important gene associated with Episodic Ataxia is KCNA1 (Potassium Voltage-Gated Channel Subfamily A Member 1), 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 behavior/neurological and nervous system

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

Genetics Home Reference : 24 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 : 49 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.  Last updated: 4/21/2016

Wikipedia : 72 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 64)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 34.4 CACNA1A CACNB4 KCNA1
2 episodic ataxia, type 7 33.8 CACNA1A EA7 KCNA1
3 episodic ataxia, type 6 33.6 CACNA1A SLC1A1 SLC1A3
4 episodic ataxia, type 1 33.3 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
5 autosomal dominant cerebellar ataxia 31.5 CACNA1A FGF14 KCNA1 KCND3
6 spinocerebellar ataxia 6 30.6 CACNA1A KCNA1
7 hemiplegic migraine 30.2 ATP1A2 CACNA1A PRRT2
8 migraine with or without aura 1 30.2 ATP1A2 CACNA1A PRRT2 SLC1A3
9 hemiplegia 30.1 ATP1A2 CACNA1A SLC1A3
10 torticollis 30.0 CACNA1A PRRT2
11 epilepsy, idiopathic generalized 29.6 CACNA1A CACNB4 KCNA1 SCN2A
12 neuromyotonia and axonal neuropathy, autosomal recessive 12.5
13 episodic ataxia, type 5 12.3
14 episodic ataxia, type 4 12.2
15 episodic ataxia, type 3 12.1
16 episodic ataxia, type 8 12.1
17 ocular neuromyotonia 12.1
18 esophageal atresia/tracheoesophageal fistula 11.8
19 dystonia 9 11.3
20 congenital myasthenic syndrome with episodic apnea 11.2
21 schwartz-jampel syndrome, type 1 11.2
22 paraneoplastic syndromes 11.2
23 familial hemiplegic migraine 11.1
24 cramp-fasciculation syndrome 11.1
25 ataxia and polyneuropathy, adult-onset 10.8
26 convulsions, familial infantile, with paroxysmal choreoathetosis 10.8
27 paroxysmal exertion-induced dyskinesia 10.8
28 sporadic hemiplegic migraine 10.3 ATP1A2 CACNA1A
29 spinocerebellar ataxia 27 10.2 CACNA1A FGF14 KCNA1
30 spinocerebellar ataxia type 19/22 10.2 CACNA1A KCND3
31 benign neonatal seizures 10.2 KCNA2 SCN2A
32 epilepsy, familial temporal lobe, 3 10.2 KCNAB1 SCN2A
33 seizures, benign familial infantile, 3 10.2 KCNA1 SCN2A
34 benign familial neonatal epilepsy 10.2 PRRT2 SCN2A
35 alternating hemiplegia of childhood 10.1 ATP1A2 CACNA1A SLC1A3
36 familial or sporadic hemiplegic migraine 10.1 ATP1A2 CACNA1A PRRT2
37 epilepsy 10.1
38 undetermined early-onset epileptic encephalopathy 10.1 CACNA1A KCNA2
39 infancy electroclinical syndrome 10.1 PRRT2 SCN2A
40 migraine with aura 10.1 ATP1A2 CACNA1A PRRT2
41 seizures, benign familial neonatal, 1 10.1
42 dicarboxylic aminoaciduria 10.0 SLC1A1 SLC1A3
43 benign familial infantile epilepsy 10.0 ATP1A2 PRRT2 SCN2A
44 central nervous system origin vertigo 9.9
45 neuronitis 9.9
46 dystonia 9.8
47 headache 9.8
48 myasthenia gravis 9.7
49 blood group, i system 9.6
50 paramyotonia congenita of von eulenburg 9.6

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:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
2 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
3 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
4 fasciculations 55 31 frequent (33%) Frequent (79-30%) HP:0002380
5 muscle cramps 55 31 frequent (33%) Frequent (79-30%) HP:0003394
6 muscle stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0003552
7 calf muscle hypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0008981
8 muscle fibrillation 55 31 frequent (33%) Frequent (79-30%) HP:0010546
9 distal sensory impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002936
10 muscle weakness 55 31 very rare (1%) Very rare (<4-1%) HP:0001324
11 myokymia 55 Frequent (79-30%)
12 emg: myokymic discharges 55 Frequent (79-30%)
13 emg 31 frequent (33%) HP:0100288

UMLS symptoms related to Episodic Ataxia:


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

MGI Mouse Phenotypes related to Episodic Ataxia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 KCNAB1 PRRT2 SCN2A SLC1A1 SLC1A3 ATP1A2
2 nervous system MP:0003631 9.4 KCNA4 KCNAB1 PRRT2 SCN2A SLC1A1 SLC1A3

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 28

Anatomical Context for Episodic Ataxia

MalaCards organs/tissues related to Episodic Ataxia:

38
Brain, Skin, Testes, Eye

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 201)
# Title Authors Year
1
A novel mutation in SLC1A3 causes episodic ataxia. ( 29208948 )
2018
2
A novel CACNA1A mutation associated with episodic ataxia 2 presenting with periodic paralysis. ( 29442233 )
2018
3
Acetazolamide-responsive Episodic Ataxia Without Baseline Deficits or Seizures Secondary to GLUT1 Deficiency: A Case Report and Review of the Literature. ( 29266039 )
2018
4
Case report of novel CACNA1A gene mutation causing episodic ataxia type 2. ( 28540055 )
2017
5
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
6
Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation. ( 28643957 )
2017
7
Genetic Variants Associated with Episodic Ataxia in Korea. ( 29062094 )
2017
8
Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia. ( 28566750 )
2017
9
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
10
Autoimmune episodic ataxia in patients with anti-CASPR2 antibody-associated encephalitis. ( 28638854 )
2017
11
Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene. ( 29253853 )
2017
12
Characterization of the dominant inheritance mechanism of Episodic Ataxia type 2. ( 28688851 )
2017
13
Slowed abduction during smooth pursuit eye movement in episodic ataxia type 2 with a novel CACNA1A mutation. ( 28991713 )
2017
14
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
15
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing. ( 28216637 )
2017
16
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant. ( 27260834 )
2016
17
Late-onset episodic ataxia associated with SLC1A3 mutation. ( 27829685 )
2016
18
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels. ( 26778656 )
2016
19
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. ( 27477325 )
2016
20
Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
21
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. ( 27271339 )
2016
22
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
23
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
24
Episodic ataxia associated with a de novo SCN2A mutation. ( 27328862 )
2016
25
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. ( 27871455 )
2016
26
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. ( 27733563 )
2016
27
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. ( 26645390 )
2016
28
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
29
Neuropathology in a case of episodic ataxia type 4. ( 26264377 )
2015
30
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
31
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. ( 25659636 )
2015
32
New insights into the pathogenesis and therapeutics of episodic ataxia type 1. ( 26347608 )
2015
33
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. ( 25468264 )
2015
34
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. ( 25566820 )
2015
35
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2. ( 24768804 )
2014
36
Curable episodic ataxia? History taking versus advanced diagnostic instruments. ( 24239182 )
2014
37
A novel KCNA1 mutation causing episodic ataxia type I. ( 24639406 )
2014
38
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. ( 24200040 )
2014
39
The first knockin mouse model of episodic ataxia type 2. ( 25109669 )
2014
40
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. ( 24658662 )
2014
41
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. ( 24578548 )
2014
42
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. ( 24420976 )
2014
43
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. ( 23183922 )
2013
44
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations. ( 23909822 )
2013
45
Ion channel disorders: still a fascinating topic--news on episodic ataxia type 1. ( 23457223 )
2013
46
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. ( 23349320 )
2013
47
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. ( 23441182 )
2013
48
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. ( 24665320 )
2013
49
A novel locus for episodic ataxia:UBR4 the likely candidate. ( 23982692 )
2013
50
Familial episodic ataxia in lambs. ( 22985028 )
2013

Variations for Episodic Ataxia

ClinVar genetic disease variations for Episodic Ataxia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742

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:

36
# 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 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
2
Show member pathways
12.45 ATP1A2 CACNB4 FGF14 KCND3 SCN2A
3 12.24 SCN2A SLC1A1 SLC1A3 SLC1A4
4
Show member pathways
11.72 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
5
Show member pathways
11.6 ATP1A2 CACNA1A SLC1A3
6 11.52 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
7
Show member pathways
11.31 CACNB4 FGF14 SCN2A

GO Terms for Episodic Ataxia

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.91 CACNA1A KCNA1 KCNA2 KCNA4 KCND3 SLC1A3
2 synapse GO:0045202 9.85 ATP1A2 CACNA1A KCNA1 KCNA2 PRRT2
3 dendrite GO:0030425 9.8 CACNA1A KCNA1 KCNA2 KCND3 SLC1A4
4 neuronal cell body GO:0043025 9.77 CACNA1A KCNA1 KCNAB1 SLC1A3 SLC1A4
5 perikaryon GO:0043204 9.69 KCNA1 KCNA2 KCNAB1
6 axon GO:0030424 9.65 KCNA1 KCNA2 KCNA4 KCNAB1 SCN2A
7 voltage-gated calcium channel complex GO:0005891 9.54 CACNA1A CACNB4
8 paranode region of axon GO:0033270 9.48 KCNA1 SCN2A
9 juxtaparanode region of axon GO:0044224 9.33 KCNA1 KCNA2 KCNAB1
10 potassium channel complex GO:0034705 9.13 KCNA1 KCNA2 KCNAB1
11 voltage-gated potassium channel complex GO:0008076 9.02 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
12 integral component of membrane GO:0016021 10.3 ATP1A2 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1
13 plasma membrane GO:0005886 10.13 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4
14 integral component of plasma membrane GO:0005887 10.04 KCNA1 KCNA2 KCNA4 SCN2A SLC1A1 SLC1A3

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.85 ATP1A2 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
2 transmembrane transport GO:0055085 9.85 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
3 chemical synaptic transmission GO:0007268 9.83 CACNA1A CACNB4 KCNA1 SLC1A1 SLC1A3
4 protein homooligomerization GO:0051260 9.8 KCNA1 KCNA2 KCNA4 KCND3 SLC1A1
5 potassium ion transmembrane transport GO:0071805 9.8 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3 SLC1A3
6 chloride transmembrane transport GO:1902476 9.76 SLC1A1 SLC1A3 SLC1A4
7 amino acid transport GO:0006865 9.73 SLC1A1 SLC1A3 SLC1A4
8 neuronal action potential GO:0019228 9.67 KCNA1 KCNA2 SCN2A
9 glutamate secretion GO:0014047 9.63 SLC1A1 SLC1A3
10 membrane depolarization during action potential GO:0086010 9.62 CACNA1A SCN2A
11 membrane depolarization GO:0051899 9.62 CACNA1A CACNB4
12 neuromuscular process GO:0050905 9.61 CACNA1A KCNA1
13 synaptic transmission, glutamatergic GO:0035249 9.61 CACNA1A SLC1A4
14 regulation of muscle contraction GO:0006937 9.6 ATP1A2 KCNA1
15 L-glutamate transmembrane transport GO:0089711 9.59 SLC1A1 SLC1A3
16 L-glutamate transport GO:0015813 9.58 SLC1A1 SLC1A3
17 membrane repolarization GO:0086009 9.57 ATP1A2 KCND3
18 regulation of ion transmembrane transport GO:0034765 9.56 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
19 neurotransmitter uptake GO:0001504 9.55 ATP1A2 SLC1A3
20 L-glutamate import across plasma membrane GO:0098712 9.54 SLC1A1 SLC1A3
21 D-aspartate import GO:0070779 9.52 SLC1A1 SLC1A3
22 L-glutamate import GO:0051938 9.51 SLC1A1 SLC1A3
23 D-aspartate import across plasma membrane GO:0140016 9.48 SLC1A1 SLC1A3
24 L-aspartate import across plasma membrane GO:0140009 9.46 SLC1A1 SLC1A3
25 ion transport GO:0006811 9.36 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4
26 transport GO:0006810 10.03 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4

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 9.69 CACNA1A KCNA1 SCN2A
2 symporter activity GO:0015293 9.67 SLC1A1 SLC1A3 SLC1A4
3 delayed rectifier potassium channel activity GO:0005251 9.52 KCNA1 KCNA2
4 amino acid transmembrane transporter activity GO:0015171 9.5 SLC1A1 SLC1A3 SLC1A4
5 potassium ion binding GO:0030955 9.48 ATP1A2 KCNA4
6 high voltage-gated calcium channel activity GO:0008331 9.46 CACNA1A CACNB4
7 potassium channel activity GO:0005267 9.46 KCNA1 KCNA2 KCNA4 KCND3
8 L-glutamate transmembrane transporter activity GO:0005313 9.43 SLC1A1 SLC1A3
9 glutamate binding GO:0016595 9.4 SLC1A1 SLC1A3
10 high-affinity glutamate transmembrane transporter activity GO:0005314 9.37 SLC1A1 SLC1A3
11 voltage-gated potassium channel activity GO:0005249 9.35 KCNA1 KCNA2 KCNA4 KCNAB1 KCND3
12 glutamate:sodium symporter activity GO:0015501 9.26 SLC1A1 SLC1A3
13 voltage-gated ion channel activity GO:0005244 9.17 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1 KCND3

Sources for Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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