EA
MCID: EPS003
MIFTS: 57

Episodic Ataxia (EA) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Episodic Ataxia

Aliases & Descriptions for Episodic Ataxia:

Name: Episodic Ataxia 12 50 25 42 14 69
Acquired Neuromyotonia 50 56 69
Neuromyotonia 50 51 52
Continuous Muscle Fiber Activity Syndrome 50 56
Peripheral Nerve Hyperexcitability 50 56
Quantal Squander Syndrome 50 56
Episodic Ataxia Syndrome 50 29
Isaac-Mertens Syndrome 50 56
Isaacs' Syndrome 50 51
Isaacs Syndrome 12 69
Isaac Syndrome 50 56
Isaac's-Merten's Syndrome 50
Ea Syndrome 50
Ea 25

Characteristics:

Orphanet epidemiological data:

56
isaac syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:963
MeSH 42 C580065
SNOMED-CT 64 421455009
Orphanet 56 ORPHA84142
ICD10 via Orphanet 34 G71.1
UMLS 69 C1720189

Summaries for Episodic Ataxia

NINDS : 51 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 acquired neuromyotonia, is related to episodic ataxia, type 2 and episodic ataxia/myokymia syndrome, and has symptoms including muscle weakness, muscle fibrillation and hyperhidrosis. An important gene associated with Episodic Ataxia is KCNA1 (Potassium Voltage-Gated Channel Subfamily A Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Potassium Channels. The drugs Antibodies and gamma-Globulins have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and testes, and related phenotypes are behavior/neurological and mortality/aging

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 : 50 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 : 71 Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe... more...

Related Diseases for Episodic Ataxia

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 8 Episodic Ataxia, Type 3
Episodic Ataxia, Type 5 Episodic Ataxia, Type 6
Episodic Ataxia, Type 2 Episodic Ataxia, Type 7
Episodic Ataxia, Type 4

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

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 12.5
2 episodic ataxia/myokymia syndrome 12.5
3 episodic ataxia, type 6 12.4
4 neuromyotonia and axonal neuropathy, autosomal recessive 12.3
5 episodic ataxia, type 5 12.2
6 episodic ataxia, type 4 12.1
7 episodic ataxia, type 7 12.0
8 episodic ataxia, type 8 12.0
9 episodic ataxia, type 3 12.0
10 ocular neuromyotonia 12.0
11 esophageal atresia/tracheoesophageal fistula 11.6
12 paraneoplastic syndromes 11.1
13 dystonia 9 11.1
14 familial hemiplegic migraine 11.0
15 cramp-fasciculation syndrome 11.0
16 ataxia 10.7
17 autosomal dominant cerebellar ataxia 10.7
18 spinocerebellar ataxia 6 10.7
19 nephrotic syndrome, type 9 10.2 CACNA1A KCNA1
20 laron dwarfism 10.2 CACNA1A SLC1A3
21 diamond-blackfan anemia 13 10.2 CACNA1A KCNA1
22 20q11.2 microdeletion syndrome 10.2 CACNA1A KCNA2
23 hypocalcemia, autosomal dominant 2 10.2 CACNA1A KCNA1
24 hypocalciuric hypercalcemia, type ii 10.1 CACNA1A CACNB4 KCNA1
25 epilepsy 10.1
26 hyaline fibromatosis syndrome 10.1 KCNAB1 SCN2A
27 suppurative cholangitis 10.0 KCNA2 SCN2A
28 cephalic disorders 10.0 CACNA1A CACNB4 KCNA1
29 syphilitic spinal sclerosis 10.0 PRRT2 SCN2A
30 epileptic encephalopathy, early infantile, 11 10.0 KCNA1 SCN2A
31 hemiplegic migraine 10.0
32 gingival disease 10.0 PRRT2 SCN2A
33 epilepsy, generalized, with febrile seizures plus, type 5 10.0 CACNB4 KCNA1 SCN2A
34 infantile hypotonia 9.9 ATP1A2 CACNA1A
35 salpingo-oophoritis 9.9 ATP1A2 CACNA1A SLC1A3
36 deafness, autosomal dominant 7 9.9 ATP1A2 CACNA1A SLC1A3
37 early onset absence epilepsy 9.9 PRRT2 SCN2A
38 atrial fibrillation and stroke 9.9 ATP1A2 CACNA1A PRRT2
39 acro-pectoro-renal dysplasia 9.9 ATP1A2 CACNA1A PRRT2
40 interstitial emphysema 9.8 ATP1A2 CACNA1A PRRT2
41 hemorrhagic shock and encephalopathy syndrome 9.8 ATP1A2 CACNA1A PRRT2
42 neuronitis 9.8
43 hemiplegia 9.8
44 microscopic colitis 9.8 ATP1A2 CACNA1A
45 microcephaly 13, primary, autosomal recessive 9.8 ATP1A2 CACNA1A PRRT2
46 retinal cone dystrophy 3 9.8 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1
47 gaba aminotransferase deficiency 9.7 ATP1A2 PRRT2 SCN2A
48 headache 9.7
49 dystonia 9.7
50 myasthenia gravis 9.7

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:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 56 32 Very rare (<4-1%) HP:0001324
2 muscle fibrillation 56 32 Frequent (79-30%) HP:0010546
3 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
4 eeg abnormality 56 32 Frequent (79-30%) HP:0002353
5 weight loss 56 32 Frequent (79-30%) HP:0001824
6 muscle cramps 56 32 Frequent (79-30%) HP:0003394
7 fasciculations 56 32 Frequent (79-30%) HP:0002380
8 distal sensory impairment 56 32 Occasional (29-5%) HP:0002936
9 calf muscle hypertrophy 56 32 Frequent (79-30%) HP:0008981
10 muscle stiffness 56 32 Frequent (79-30%) HP:0003552
11 myokymia 56 Frequent (79-30%)
12 emg: myokymic discharges 56 Frequent (79-30%)
13 emg 32 HP:0100288

UMLS symptoms related to Episodic Ataxia:


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

MGI Mouse Phenotypes related to Episodic Ataxia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1
2 mortality/aging MP:0010768 9.61 ATP1A2 CACNA1A CACNB4 DARS2 KCNA1 KCNA2
3 nervous system MP:0003631 9.28 KCNAB1 PRRT2 SCN2A SLC1A3 ATP1A2 CACNA1A

Drugs & Therapeutics for Episodic Ataxia

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

(show top 50) (show all 132)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 3,Phase 2
2 gamma-Globulins Phase 4,Phase 3
3 Immunoglobulins Phase 4,Phase 3,Phase 2
4 Immunoglobulins, Intravenous Phase 4,Phase 3
5 Rho(D) Immune Globulin Phase 4,Phase 3
6
Asparaginase Approved Phase 3 9015-68-3
7
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
8
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
11
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
12
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
13
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
14
Etoposide Approved Phase 3 33419-42-0 36462
15
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
16
Levoleucovorin Approved Phase 3 68538-85-2
17
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
18
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
19
Pegaspargase Approved, Investigational Phase 3 130167-69-0
20
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
21
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
22
Thioguanine Approved Phase 3 154-42-7 2723601
23
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
24
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
25
Bevacizumab Approved, Investigational Phase 3,Phase 2 216974-75-3
26
Fluorouracil Approved Phase 3 51-21-8 3385
27
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
28
Apixaban Approved Phase 3 503612-47-3 10182969
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
31
Butyric Acid Experimental Phase 3 107-92-6 264
32
Doxil Approved June 1999 Phase 3 31703
33 Pharmaceutical Solutions Phase 3
34 Immunoglobulin G Phase 3,Phase 2
35 Antimetabolites Phase 3,Phase 2
36 Antimetabolites, Antineoplastic Phase 3,Phase 2
37 2-Aminopurine Phase 3
38 6-Mercaptopurine Phase 3
39 Alkylating Agents Phase 3
40 Anti-Bacterial Agents Phase 3,Phase 2
41 Antibiotics, Antitubercular Phase 3,Phase 2
42 Antidotes Phase 3
43 Antiemetics Phase 3
44 Anti-Infective Agents Phase 3,Phase 2
45 Anti-Inflammatory Agents Phase 3
46 Antimitotic Agents Phase 3
47 Antineoplastic Agents, Alkylating Phase 3
48 Antineoplastic Agents, Hormonal Phase 3,Phase 1
49 Antineoplastic Agents, Phytogenic Phase 3
50 Antirheumatic Agents Phase 3

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4
2 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3
3 Safety and Efficacy Study of a 10% Intravenous Immune Globulin Solution in Subjects With Primary Immunodeficiency Disorders Completed NCT00157079 Phase 3
4 A Study of NewGam, Human Immunoglobulin 10%, in Patients With Primary Immunodeficiency Diseases Completed NCT01012323 Phase 3
5 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Recruiting NCT02883049 Phase 3
6 Breast Cancer WEight Loss Study (BWEL Study) Recruiting NCT02750826 Phase 3
7 A Phase 3, Multinational, Multicenter, Open-Label Study of ProMetic BioTherapeutics IVIG Recruiting NCT02269163 Phase 3
8 Lenalidomide With or Without Epoetin Alfa in Treating Patients With Myelodysplastic Syndrome and Anemia Active, not recruiting NCT00843882 Phase 3
9 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
10 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3
11 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2
12 Azacitidine With or Without Entinostat in Treating Patients With Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Acute Myeloid Leukemia Completed NCT00313586 Phase 2
13 Low-Dose or High-Dose Lenalidomide in Treating Younger Patients With Recurrent, Refractory, or Progressive Pilocytic Astrocytoma or Optic Pathway Glioma Active, not recruiting NCT01553149 Phase 2
14 Temsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer Active, not recruiting NCT01010126 Phase 2
15 PLX3397, Radiation Therapy, and Antihormone Therapy in Treating Patients With Intermediate- or High-Risk Prostate Cancer Recruiting NCT02472275 Phase 1
16 Pembrolizumab in Treating Patients With HIV and Relapsed, Refractory, or Disseminated Malignant Neoplasms Recruiting NCT02595866 Phase 1
17 Characteristics of Episodic Ataxia Syndrome Unknown status NCT00266760
18 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
19 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
20 Prospective Study of 2 mm Margins for the Biopsy of Dysplastic Nevi Completed NCT03094273
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Cups or Cash for Girls Trial to Reduce Sexual and Reproductive Harm and School Dropout Recruiting NCT03051789
23 Screening and Natural History: Primary Lateral Sclerosis and Related Disorders Active, not recruiting NCT00015444

Search NIH Clinical Center for Episodic Ataxia

Cochrane evidence based reviews: episodic ataxia

Genetic Tests for Episodic Ataxia

Genetic tests related to Episodic Ataxia:

id Genetic test Affiliating Genes
1 Episodic Ataxia 29

Anatomical Context for Episodic Ataxia

MalaCards organs/tissues related to Episodic Ataxia:

39
Brain, Skin, Testes

Publications for Episodic Ataxia

Articles related to Episodic Ataxia:

(show top 50) (show all 190)
id Title Authors Year
1
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2. ( 28431595 )
2017
2
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2. ( 28096552 )
2017
3
Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Cav2.1 (P/Q-Type) Calcium Channels. ( 28167673 )
2017
4
Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing. ( 28216637 )
2017
5
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. ( 27066515 )
2016
6
Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members. ( 27025991 )
2016
7
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. ( 26645390 )
2016
8
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. ( 27733563 )
2016
9
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. ( 27477325 )
2016
10
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels. ( 26778656 )
2016
11
A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant. ( 27260834 )
2016
12
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. ( 27871455 )
2016
13
Pearls & Oy-sters: Episodic ataxia type 2: Case report and review of the literature. ( 27272039 )
2016
14
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. ( 27271339 )
2016
15
Episodic ataxia associated with a de novo SCN2A mutation. ( 27328862 )
2016
16
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. ( 26912519 )
2016
17
Late-onset episodic ataxia associated with SLC1A3 mutation. ( 27829685 )
2016
18
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
19
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. ( 25566820 )
2015
20
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine. ( 25468264 )
2015
21
Neuropathology in a case of episodic ataxia type 4. ( 26264377 )
2015
22
New insights into the pathogenesis and therapeutics of episodic ataxia type 1. ( 26347608 )
2015
23
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. ( 25659636 )
2015
24
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2. ( 24768804 )
2014
25
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. ( 24578548 )
2014
26
The first knockin mouse model of episodic ataxia type 2. ( 25109669 )
2014
27
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature. ( 24658662 )
2014
28
A novel KCNA1 mutation causing episodic ataxia type I. ( 24639406 )
2014
29
Rebound Upbeat Nystagmus After Lateral Gaze in Episodic Ataxia Type 2. ( 24420976 )
2014
30
Curable episodic ataxia? History taking versus advanced diagnostic instruments. ( 24239182 )
2014
31
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia. ( 24200040 )
2014
32
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2. ( 23344743 )
2013
33
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. ( 23349320 )
2013
34
Familial episodic ataxia in lambs. ( 22985028 )
2013
35
Downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. ( 24665320 )
2013
36
Ion channel disorders: still a fascinating topic--news on episodic ataxia type 1. ( 23457223 )
2013
37
Unilateral pallidal deep brain stimulation in a patient with dystonia secondary to episodic ataxia type 2. ( 23548943 )
2013
38
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2. ( 23441182 )
2013
39
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations. ( 23909822 )
2013
40
Effects of dalfampridine on attacks in patients with episodic ataxia type 2: an observational study. ( 23183922 )
2013
41
A novel locus for episodic ataxia:UBR4 the likely candidate. ( 23982692 )
2013
42
Sleep benefit in a case of episodic ataxia. ( 22000943 )
2012
43
A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. ( 23107647 )
2012
44
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache. ( 22942164 )
2012
45
Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. ( 23126439 )
2012
46
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. ( 23077024 )
2012
47
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes. ( 22609616 )
2012
48
Episodic ataxias 1 and 2. ( 21827920 )
2012
49
New mutation of CACNA1A gene in episodic ataxia type 2. ( 21696515 )
2011
50
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. ( 21282599 )
2011

Variations for Episodic Ataxia

ClinVar genetic disease variations for Episodic Ataxia:

6
id 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
id 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

GO Terms for Episodic Ataxia

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1
2 cell projection GO:0042995 9.83 CACNA1A KCNA1 KCNA2 SLC1A3
3 synapse GO:0045202 9.76 ATP1A2 KCNA1 KCNA2 PRRT2
4 neuron projection GO:0043005 9.72 ATP1A2 KCNA2 SLC1A3
5 neuronal cell body GO:0043025 9.67 CACNA1A KCNA1 KCNAB1 SLC1A3
6 perikaryon GO:0043204 9.61 KCNA1 KCNA2 KCNAB1
7 axon terminus GO:0043679 9.54 KCNA1 KCNA2
8 intercalated disc GO:0014704 9.51 ATP1A2 SCN2A
9 voltage-gated potassium channel complex GO:0008076 9.5 KCNA1 KCNA2 KCNAB1
10 T-tubule GO:0030315 9.49 ATP1A2 SCN2A
11 voltage-gated calcium channel complex GO:0005891 9.48 CACNA1A CACNB4
12 axon GO:0030424 9.46 KCNA1 KCNA2 KCNAB1 SCN2A
13 paranode region of axon GO:0033270 9.4 KCNA1 SCN2A
14 juxtaparanode region of axon GO:0044224 9.13 KCNA1 KCNA2 KCNAB1
15 potassium channel complex GO:0034705 8.8 KCNA1 KCNA2 KCNAB1
16 integral component of membrane GO:0016021 10.16 ATP1A2 CACNA1A KCNA1 KCNA2 KCNAB1 PRRT2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.86 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1
2 chemical synaptic transmission GO:0007268 9.71 CACNA1A CACNB4 KCNA1 SLC1A3
3 potassium ion transport GO:0006813 9.67 ATP1A2 KCNA1 KCNA2 KCNAB1
4 potassium ion transmembrane transport GO:0071805 9.63 KCNA1 KCNA2 KCNAB1
5 transmembrane transport GO:0055085 9.63 CACNA1A KCNA1 KCNA2 KCNAB1 SCN2A SLC1A3
6 neuromuscular process controlling balance GO:0050885 9.54 CACNA1A SLC1A3
7 membrane depolarization during action potential GO:0086010 9.52 CACNA1A SCN2A
8 membrane depolarization GO:0051899 9.51 CACNA1A CACNB4
9 neuronal action potential GO:0019228 9.5 KCNA1 KCNA2 SCN2A
10 neuromuscular process GO:0050905 9.49 CACNA1A KCNA1
11 regulation of muscle contraction GO:0006937 9.48 ATP1A2 KCNA1
12 neurotransmitter uptake GO:0001504 9.43 ATP1A2 SLC1A3
13 regulation of ion transmembrane transport GO:0034765 9.43 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1 SCN2A
14 ion transport GO:0006811 9.23 ATP1A2 CACNA1A CACNB4 KCNA1 KCNA2 KCNAB1

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.43 CACNA1A KCNA1 SCN2A
2 voltage-gated calcium channel activity GO:0005245 9.37 CACNA1A CACNB4
3 delayed rectifier potassium channel activity GO:0005251 9.32 KCNA1 KCNA2
4 high voltage-gated calcium channel activity GO:0008331 9.16 CACNA1A CACNB4
5 voltage-gated potassium channel activity GO:0005249 9.13 KCNA1 KCNA2 KCNAB1
6 voltage-gated ion channel activity GO:0005244 9.02 CACNA1A KCNA1 KCNA2 KCNAB1 SCN2A

Sources for Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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