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 52 25 29 6 43 15 71
Isaacs Syndrome 12 74 36 71
Acquired Neuromyotonia 52 58 71
Neuromyotonia 52 53 54
Continuous Muscle Fiber Activity Syndrome 52 58
Peripheral Nerve Hyperexcitability 52 58
Quantal Squander Syndrome 52 58
Isaac-Mertens Syndrome 52 58
Isaacs' Syndrome 52 53
Isaac Syndrome 52 58
Isaac's-Merten's Syndrome 52
Episodic Ataxia Syndrome 52
Episodic Ataxias 36
Ea Syndrome 52
Ea 25

Characteristics:

Orphanet epidemiological data:

58
isaac syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:963
MeSH 43 C580065
ICD10 via Orphanet 33 G71.1
UMLS via Orphanet 72 C0242287 C0751919
Orphanet 58 ORPHA84142
UMLS 71 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 5, 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 eye, brain and skin, and related phenotypes are eeg abnormality and hyperhidrosis

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

NIH Rare Diseases : 52 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 : 53 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 : 36 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 : 74 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 409)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 35.1 KCNMA1 KCNA1 CACNB4 CACNA1A ATP1A2
2 episodic ataxia, type 5 35.0 CACNB4 CACNA1A ATP1A2
3 episodic ataxia, type 7 35.0 KCNA1 EA7 CACNA1A
4 episodic ataxia, type 6 35.0 SLC1A3 SLC1A1 CACNB4
5 episodic ataxia, type 3 34.9 EA3 CACNA1A
6 episodic ataxia, type 1 34.9 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1 CACNB4
7 hereditary episodic ataxia 34.5 SLC1A3 SCN2A KCNA1 CACNA1A
8 familial hemiplegic migraine 32.8 SLC1A3 PRRT2 KCNA1 CACNB4 CACNA1A ATP1A2
9 autosomal dominant cerebellar ataxia 32.8 KCND3 KCNA1 FGF14 CACNA1A
10 hemiplegic migraine 31.7 PRRT2 CACNA1A ATP1A2
11 spinocerebellar ataxia 6 31.4 KCNA1 CACNB4 CACNA1A ATP1A2
12 migraine with or without aura 1 31.3 SLC1A3 SCN4A SCN2A PRRT2 KCNA1 CACNB4
13 aceruloplasminemia 31.3 SLC1A3 KCND3 KCNA1 FGF14 CACNA1A
14 hereditary ataxia 31.1 SLC1A3 KCND3 KCNA1 FGF14 CACNB4 CACNA1A
15 hemiplegia 31.0 SLC1A3 SLC1A1 CACNA1A ATP1A2
16 familial or sporadic hemiplegic migraine 30.9 PRRT2 CACNA1A ATP1A2
17 headache 30.9 CACNB4 CACNA1A ATP1A2
18 torticollis 30.8 PRRT2 CACNA1A
19 epilepsy, myoclonic juvenile 30.7 SCN2A KCNA1 CACNB4 CACNA1A
20 alternating hemiplegia of childhood 30.7 SLC1A3 PRRT2 CACNA1A ATP1A2
21 epilepsy 30.6 SCN2A PRRT2 KCNMA1 KCNA1 CACNB4 CACNA1A
22 benign neonatal seizures 30.6 SCN2A KCNA2 KCNA1
23 episodic kinesigenic dyskinesia 1 30.5 PRRT2 KCNA1 CACNB4
24 hypokalemic periodic paralysis, type 1 30.5 SCN4A SCN2A KCNMA1 CACNA1A
25 epilepsy, idiopathic generalized 30.5 SCN4A SCN2A PRRT2 KCNA2 KCNA1 CACNB4
26 paroxysmal dyskinesia 30.5 PRRT2 KCNMA1 FGF14
27 epileptic encephalopathy, early infantile, 11 30.4 SCN2A NALCN
28 childhood absence epilepsy 30.4 SCN2A PRRT2 KCNA1 CACNB4 CACNA1A
29 spinocerebellar ataxia 27 30.4 FGF14 CACNA1A
30 migraine with aura 30.3 PRRT2 CACNA1A ATP1A2
31 early infantile epileptic encephalopathy 30.1 SCN4A SCN2A PRRT2 KCNA2 KCNA1 CACNB4
32 episodic ataxia, type 4 12.7
33 episodic ataxia, type 8 12.7
34 ocular neuromyotonia 12.4
35 esophageal atresia/tracheoesophageal fistula 12.4
36 neuromyotonia and axonal neuropathy, autosomal recessive 11.9
37 cramp-fasciculation syndrome 11.7
38 dystonia 9 11.6
39 congenital myasthenic syndrome with episodic apnea 11.5
40 schwartz-jampel syndrome, type 1 11.5
41 mandibulofacial dysostosis, guion-almeida type 11.4
42 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
43 neuropathy, hereditary sensory and autonomic, type iia 11.2
44 myasthenic syndrome, congenital, 6, presynaptic 11.2
45 paraneoplastic neurologic disorders 11.2
46 paroxysmal exertion-induced dyskinesia 11.0
47 ataxia and polyneuropathy, adult-onset 11.0
48 sporadic hemiplegic migraine 10.7 CACNA1A ATP1A2
49 pathologic nystagmus 10.6
50 seizures, benign familial neonatal, 1 10.6

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
2 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
3 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
4 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
5 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
6 muscle fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0010546
7 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
8 emg: myokymic discharges 58 31 frequent (33%) Frequent (79-30%) HP:0100288
9 muscle spasm 31 frequent (33%) HP:0003394
10 distal sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002936
11 muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0001324
12 muscle cramps 58 Frequent (79-30%)
13 myokymia 58 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNA2
2 muscle MP:0005369 9.5 ATP1A2 CACNA1A CACNB4 FGF14 KCNA1 KCNMA1
3 nervous system MP:0003631 9.5 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 6857599 43805
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:

40
Eye, Brain, Skin, Thyroid, Heart, Liver, Breast

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 660)
# 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. 54 61
16956965 2007
2
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. 54 61
15351427 2004
3
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. 54 61
12799903 2003
4
Cognitive impairment in children with CACNA1A mutations. 61
31115040 2020
5
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. 61
31586945 2020
6
Episodic Ataxia Secondary to CEP290 Compound Heterozygous Mutations: A Case Report. 61
31970223 2020
7
The neurological update: therapies for cerebellar ataxias in 2020. 61
32002650 2020
8
Phenotypic Characterization of Larval Zebrafish (Danio rerio) with Partial Knockdown of the cacna1a Gene. 61
31875924 2019
9
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. 61
31904126 2019
10
Kv1.1 channel subunits in the control of neurocardiac function. 61
31250689 2019
11
The phenotypic spectrum of SCN2A-related epilepsy. 61
31924505 2019
12
Childhood onset of acquired neuromyotonia: association with vitamin D deficiency. 61
31813337 2019
13
Epilepsy and brain channelopathies from infancy to adulthood. 61
31838630 2019
14
Teaching NeuroImages: When MRI is a clue in episodic ataxia. 61
31767667 2019
15
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing. 61
31288946 2019
16
A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine. 61
31640633 2019
17
Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation. 61
31226716 2019
18
Paroxysmal movement disorders - practical update on diagnosis and management. 61
31353980 2019
19
Impact of 4-aminopyridine on vestibulo-ocular reflex performance. 61
31270663 2019
20
Spontaneous Remission of Isaacs’ Syndrome 61
31007004 2019
21
Teaching Video NeuroImages: Cold-induced laryngeal pseudomyotonia in Isaacs syndrome. 61
31160414 2019
22
Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. 61
30142438 2019
23
Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum. 61
30741786 2019
24
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene. 61
30607796 2019
25
What Is Behind Cerebellar Vertigo and Dizziness? 61
30552638 2019
26
Vestibular Migraine: How to Sort it Out and What to Do About it. 61
31094996 2019
27
Waves in Extremities: A Rare Report of Isolated Isaacs' Syndrome. 61
31338264 2019
28
Clinical and genetic spectrum of SCN2A-associated episodic ataxia. 61
30928199 2019
29
Episodic ataxia: A 20-year diagnostic delay. 61
31047732 2019
30
Episodic ataxia in CASPR2 autoimmunity. 61
30697586 2019
31
Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation. 61
30501978 2019
32
A novel mutation in CACNA1A gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine. 61
30881862 2019
33
Episodic ataxia type 2 characterised by recurrent dizziness/vertigo: a report of four cases. 61
29883219 2019
34
The neuropsychiatric phenotype in CACNA1A mutations: a retrospective single center study and review of the literature. 61
30063100 2019
35
Compound heterozygosity with PRRT2: Pushing the phenotypic envelope in genetic epilepsies. 61
31193310 2019
36
Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders. 61
30182858 2019
37
Autoimmune Channelopathies at Neuromuscular Junction. 61
31156543 2019
38
Peripheral nerve hyperexcitability. 61
31307606 2019
39
Ultrasound Stimulation Modulates Voltage-Gated Potassium Currents Associated With Action Potential Shape in Hippocampal CA1 Pyramidal Neurons. 61
31178727 2019
40
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. 61
30165711 2018
41
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. 61
29956301 2018
42
Peripheral Nerve Block Provides Effective Analgesia for a Patient With Peripheral Nerve Hyperexcitability Syndrome: Isaacs Syndrome Case Report. 61
29894344 2018
43
Isaacs syndrome associated with GABAB and AChR antibodies in sarcomatoid carcinoma. 61
30158161 2018
44
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity. 61
30314295 2018
45
Aberrant cerebellar Purkinje cell activity as the cause of motor attacks in a mouse model of episodic ataxia type 2. 61
30279196 2018
46
Repetitive Discharge in a Case of Isaacs Syndrome with Burning Sensation. 61
29709933 2018
47
The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics. 61
29771692 2018
48
A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2. 61
29497979 2018
49
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. 61
30055040 2018
50
New CACNA1A deletions are associated to migraine phenotypes. 61
30167989 2018

Variations for Episodic Ataxia

ClinVar genetic disease variations for Episodic Ataxia:

6 (show top 50) (show all 273) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)SNV Pathogenic/Likely pathogenic 206978 rs796053124 2:166210742-166210742 2:165354232-165354232
2 CACNB4 NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe)SNV Conflicting interpretations of pathogenicity 193120 rs200092211 2:152955521-152955521 2:152099007-152099007
3 CACNB4 NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg)SNV Conflicting interpretations of pathogenicity 204939 rs200662010 2:152955482-152955482 2:152098968-152098968
4 CACNB4 NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe)SNV Conflicting interpretations of pathogenicity 204938 rs542973906 2:152955518-152955518 2:152099004-152099004
5 SLC1A3 NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys)SNV Conflicting interpretations of pathogenicity 353309 rs573483474 5:36629582-36629582 5:36629480-36629480
6 SLC1A3 NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly)SNV Conflicting interpretations of pathogenicity 353314 rs201069745 5:36677102-36677102 5:36677000-36677000
7 KCNA1 NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)SNV Conflicting interpretations of pathogenicity 309148 rs147828649 12:5022008-5022008 12:4912842-4912842
8 KCNA1 NM_000217.3(KCNA1):c.*234A>TSNV Uncertain significance 309153 rs886049514 12:5022266-5022266 12:4913100-4913100
9 KCNA1 NM_000217.3(KCNA1):c.*486G>CSNV Uncertain significance 309155 rs764863360 12:5022518-5022518 12:4913352-4913352
10 KCNA1 NM_000217.3(KCNA1):c.*511A>GSNV Uncertain significance 309156 rs886049515 12:5022543-5022543 12:4913377-4913377
11 KCNA1 NM_000217.3(KCNA1):c.*724G>ASNV Uncertain significance 309159 rs886049516 12:5022756-5022756 12:4913590-4913590
12 KCNA1 NM_000217.3(KCNA1):c.*883T>GSNV Uncertain significance 309163 rs756451969 12:5022915-5022915 12:4913749-4913749
13 KCNA1 NM_000217.3(KCNA1):c.*965A>TSNV Uncertain significance 309165 rs886049518 12:5022997-5022997 12:4913831-4913831
14 KCNA1 NM_000217.3(KCNA1):c.*1012A>TSNV Uncertain significance 309166 rs886049519 12:5023044-5023044 12:4913878-4913878
15 SLC1A3 NM_004172.5(SLC1A3):c.860+9T>CSNV Uncertain significance 353317 rs886060543 5:36677295-36677295 5:36677193-36677193
16 SLC1A3 NM_004172.5(SLC1A3):c.*313dupduplication Uncertain significance 353332 rs886060544 5:36686677-36686678 5:36686575-36686576
17 KCNA1 NM_000217.3(KCNA1):c.-1040G>TSNV Uncertain significance 309123 rs886049498 12:5019138-5019138 12:4909972-4909972
18 KCNA1 NM_000217.3(KCNA1):c.-968C>TSNV Uncertain significance 309125 rs886049500 12:5019210-5019210 12:4910044-4910044
19 KCNA1 NM_000217.3(KCNA1):c.-300_-298ACA[3]short repeat Uncertain significance 309136 rs886049506 12:5020244-5020246 12:4911078-4911080
20 KCNA1 NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln)SNV Uncertain significance 309145 rs886049511 12:5020956-5020956 12:4911790-4911790
21 KCNA1 NM_000217.3(KCNA1):c.*2278dupduplication Uncertain significance 309184 rs397724146 12:5024303-5024304 12:4915137-4915138
22 KCNA1 NM_000217.3(KCNA1):c.*3268C>TSNV Uncertain significance 309200 rs886049528 12:5025300-5025300 12:4916134-4916134
23 KCNA1 NM_000217.3(KCNA1):c.*3316T>CSNV Uncertain significance 309201 rs886049529 12:5025348-5025348 12:4916182-4916182
24 KCNA1 NM_000217.3(KCNA1):c.*4152A>GSNV Uncertain significance 309207 rs886049531 12:5026184-5026184 12:4917018-4917018
25 KCNA1 NM_000217.3(KCNA1):c.*4289T>ASNV Uncertain significance 309211 rs886049534 12:5026321-5026321 12:4917155-4917155
26 KCNA1 NM_000217.3(KCNA1):c.*4718C>TSNV Uncertain significance 309216 rs886049536 12:5026750-5026750 12:4917584-4917584
27 KCNA1 NM_000217.3(KCNA1):c.*5139dupduplication Uncertain significance 309221 rs753752185 12:5027165-5027166 12:4917999-4918000
28 KCNA1 NM_000217.3(KCNA1):c.*2758G>ASNV Uncertain significance 309194 rs886049525 12:5024790-5024790 12:4915624-4915624
29 KCNA1 NM_000217.3(KCNA1):c.-1034C>TSNV Uncertain significance 309124 rs886049499 12:5019144-5019144 12:4909978-4909978
30 KCNA1 NM_000217.3(KCNA1):c.-230C>GSNV Uncertain significance 309138 rs886049507 12:5020315-5020315 12:4911149-4911149
31 KCNA1 NM_000217.3(KCNA1):c.*592C>ASNV Uncertain significance 309158 rs144000949 12:5022624-5022624 12:4913458-4913458
32 KCNA1 NM_000217.3(KCNA1):c.*1444_*1447CAAA[4]short repeat Uncertain significance 309169 rs138257860 12:5023476-5023479 12:4914310-4914313
33 KCNA1 NM_000217.3(KCNA1):c.*2245C>GSNV Uncertain significance 309183 rs76258625 12:5024277-5024277 12:4915111-4915111
34 KCNA1 NM_000217.3(KCNA1):c.*3185deldeletion Uncertain significance 309198 rs886049526 12:5025217-5025217 12:4916051-4916051
35 KCNA1 NM_000217.3(KCNA1):c.*3503C>TSNV Uncertain significance 309203 rs532649581 12:5025535-5025535 12:4916369-4916369
36 KCNA1 NM_000217.3(KCNA1):c.*4926G>ASNV Uncertain significance 309218 rs886049537 12:5026958-5026958 12:4917792-4917792
37 KCNA1 NM_000217.3(KCNA1):c.*5136A>GSNV Uncertain significance 309222 rs886049540 12:5027168-5027168 12:4918002-4918002
38 KCNA1 NM_000217.3(KCNA1):c.*4303A>TSNV Uncertain significance 309212 rs886049535 12:5026335-5026335 12:4917169-4917169
39 KCNA1 NM_000217.3(KCNA1):c.-27C>TSNV Uncertain significance 309142 rs886049508 12:5020518-5020518 12:4911352-4911352
40 KCNA1 NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys)SNV Uncertain significance 309147 rs886049512 12:5021908-5021908 12:4912742-4912742
41 KCNA1 NM_000217.3(KCNA1):c.*88G>ASNV Uncertain significance 309149 rs886049513 12:5022120-5022120 12:4912954-4912954
42 KCNA1 NM_000217.3(KCNA1):c.*804C>ASNV Uncertain significance 309161 rs886049517 12:5022836-5022836 12:4913670-4913670
43 KCNA1 NM_000217.3(KCNA1):c.*829A>GSNV Uncertain significance 309162 rs777685914 12:5022861-5022861 12:4913695-4913695
44 KCNA1 NM_000217.3(KCNA1):c.*1504G>ASNV Uncertain significance 309171 rs770664473 12:5023536-5023536 12:4914370-4914370
45 KCNA1 NM_000217.3(KCNA1):c.*3176A>TSNV Uncertain significance 309197 rs181233186 12:5025208-5025208 12:4916042-4916042
46 KCNA1 NM_000217.3(KCNA1):c.*2000C>TSNV Uncertain significance 309178 rs886049522 12:5024032-5024032 12:4914866-4914866
47 KCNA1 NM_000217.3(KCNA1):c.*4903C>GSNV Uncertain significance 309217 rs760686126 12:5026935-5026935 12:4917769-4917769
48 KCNA1 NM_000217.3(KCNA1):c.*5106C>GSNV Uncertain significance 309220 rs886049538 12:5027138-5027138 12:4917972-4917972
49 KCNA1 NM_000217.3(KCNA1):c.*5274A>GSNV Uncertain significance 309228 rs886049541 12:5027306-5027306 12:4918140-4918140
50 KCNA1 NM_000217.3(KCNA1):c.-684G>TSNV Uncertain significance 309130 rs886049502 12:5019494-5019494 12:4910328-4910328

Copy number variations for Episodic Ataxia from CNVD:

7
# CNVD ID Chromosome 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 Synaptic vesicle cycle hsa04721
4 Glutamatergic synapse hsa04724
5 Cholinergic synapse hsa04725
6 GABAergic synapse hsa04727
7 Dopaminergic synapse hsa04728
8 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 SCN4A SCN2A KCND3 FGF14 CACNB4 ATP1A2
2 12.24 SLC1A3 SLC1A1 SCN4A SCN2A
3
Show member pathways
12.17 SLC1A3 SLC1A1 KCNMA1 KCND3 KCNAB1 KCNA4
4 11.86 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1 CACNB4
5
Show member pathways
11.8 KCNMA1 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
6
Show member pathways
11.78 SLC1A3 SLC1A1 CACNA1A ATP1A2
7
Show member pathways
11.43 SCN4A SCN2A FGF14 CACNB4

GO Terms for Episodic Ataxia

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.43 UBR4 SLC1A3 SLC1A1 SCN4A SCN2A PRRT2
2 integral component of membrane GO:0016021 10.31 UBR4 SLC1A3 SLC1A1 SCN4A SCN2A PRRT2
3 integral component of plasma membrane GO:0005887 10.08 SLC1A3 SLC1A1 SCN4A SCN2A KCNA4 KCNA2
4 plasma membrane GO:0005886 10.06 UBR4 SLC1A3 SLC1A1 SCN4A SCN2A PRRT2
5 cell projection GO:0042995 10 SLC1A3 PRRT2 KCND3 KCNA4 KCNA2 KCNA1
6 synapse GO:0045202 9.92 SLC1A3 SLC1A1 PRRT2 KCNA2 KCNA1 CACNB4
7 neuronal cell body GO:0043025 9.89 SLC1A3 KCND3 KCNAB1 KCNA1 CACNA1A
8 glutamatergic synapse GO:0098978 9.87 SCN2A PRRT2 KCNA1 CACNA1A
9 perikaryon GO:0043204 9.76 KCNAB1 KCNA2 KCNA1
10 integral component of presynaptic membrane GO:0099056 9.71 SCN2A PRRT2 KCNA2 KCNA1
11 presynaptic membrane GO:0042734 9.69 PRRT2 KCNA2 KCNA1
12 axon terminus GO:0043679 9.65 PRRT2 KCNA2 KCNA1
13 calyx of Held GO:0044305 9.58 KCNA2 KCNA1
14 voltage-gated sodium channel complex GO:0001518 9.55 SCN4A SCN2A
15 juxtaparanode region of axon GO:0044224 9.54 KCNAB1 KCNA2 KCNA1
16 paranode region of axon GO:0033270 9.52 SCN2A KCNA1
17 axon GO:0030424 9.5 SCN4A SCN2A PRRT2 KCNAB1 KCNA4 KCNA2
18 potassium channel complex GO:0034705 9.43 KCNAB1 KCNA2 KCNA1
19 voltage-gated potassium channel complex GO:0008076 9.1 KCNMA1 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1

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 10.03 SLC1A3 SLC1A1 SCN4A SCN2A NALCN KCNMA1
2 chemical synaptic transmission GO:0007268 9.88 SLC1A3 SLC1A1 KCNA1 CACNB4 CACNA1A
3 ion transmembrane transport GO:0034220 9.88 SCN2A NALCN KCNMA1 KCNAB1 CACNA1A ATP1A2
4 potassium ion transport GO:0006813 9.87 KCNMA1 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
5 protein homooligomerization GO:0051260 9.83 SLC1A1 KCND3 KCNA4 KCNA2 KCNA1
6 sodium ion transport GO:0006814 9.81 SCN4A SCN2A NALCN ATP1A2
7 potassium ion transmembrane transport GO:0071805 9.81 SLC1A3 NALCN KCNMA1 KCND3 KCNAB1 KCNA4
8 calcium ion transmembrane transport GO:0070588 9.79 NALCN CACNB4 CACNA1A
9 regulation of membrane potential GO:0042391 9.77 KCNMA1 KCNA1 CACNA1A
10 sodium ion transmembrane transport GO:0035725 9.73 SCN4A SCN2A NALCN
11 regulation of ion transmembrane transport GO:0034765 9.7 SCN4A SCN2A NALCN KCNMA1 KCND3 KCNAB1
12 neuronal action potential GO:0019228 9.67 SCN4A SCN2A KCNA2 KCNA1
13 membrane depolarization GO:0051899 9.61 CACNB4 CACNA1A
14 regulation of muscle contraction GO:0006937 9.61 KCNA1 ATP1A2
15 membrane depolarization during action potential GO:0086010 9.59 SCN4A SCN2A
16 L-glutamate transmembrane transport GO:0015813 9.58 SLC1A3 SLC1A1
17 cellular potassium ion homeostasis GO:0030007 9.58 KCNMA1 ATP1A2
18 membrane repolarization GO:0086009 9.57 KCND3 ATP1A2
19 neurotransmitter uptake GO:0001504 9.55 SLC1A3 ATP1A2
20 L-glutamate import across plasma membrane GO:0098712 9.54 SLC1A3 SLC1A1
21 D-aspartate import across plasma membrane GO:0070779 9.52 SLC1A3 SLC1A1
22 L-glutamate import GO:0051938 9.49 SLC1A3 SLC1A1
23 ion transport GO:0006811 9.47 SLC1A3 SLC1A1 SCN4A SCN2A NALCN KCNMA1
24 L-aspartate import across plasma membrane GO:0140009 9.46 SLC1A3 SLC1A1

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 9.65 SCN4A SCN2A KCNMA1 KCNA1 CACNA1A
2 potassium channel activity GO:0005267 9.55 KCNMA1 KCND3 KCNA4 KCNA2 KCNA1
3 delayed rectifier potassium channel activity GO:0005251 9.54 KCNA4 KCNA2 KCNA1
4 voltage-gated sodium channel activity GO:0005248 9.52 SCN4A SCN2A
5 L-glutamate transmembrane transporter activity GO:0005313 9.51 SLC1A3 SLC1A1
6 sodium channel activity GO:0005272 9.5 SCN4A SCN2A NALCN
7 potassium ion binding GO:0030955 9.49 KCNA4 ATP1A2
8 glutamate binding GO:0016595 9.48 SLC1A3 SLC1A1
9 high voltage-gated calcium channel activity GO:0008331 9.46 CACNB4 CACNA1A
10 high-affinity glutamate transmembrane transporter activity GO:0005314 9.43 SLC1A3 SLC1A1
11 voltage-gated potassium channel activity GO:0005249 9.43 KCNMA1 KCND3 KCNAB1 KCNA4 KCNA2 KCNA1
12 glutamate:sodium symporter activity GO:0015501 9.4 SLC1A3 SLC1A1
13 voltage-gated ion channel activity GO:0005244 9.32 SCN4A SCN2A NALCN KCNMA1 KCND3 KCNAB1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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