MCID: EPS042
MIFTS: 57

Episodic Ataxia, Type 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 1

MalaCards integrated aliases for Episodic Ataxia, Type 1:

Name: Episodic Ataxia, Type 1 57 55
Episodic Ataxia Type 1 12 24 59 29 6 15 73
Episodic Ataxia with Myokymia 57 59 75
Ea1 57 24 75
Episodic Ataxia/myokymia Syndrome 57 13
Isaacs Syndrome 44 73
Eam 57 75
Paroxysmal Ataxia with Neuromyotonia, Hereditary 57
Continuous Muscle Fiber Activity, Hereditary 73
Hereditary Continuous Muscle Fiber Activity 59
Ataxia, Episodic, with Myokymia; Aem; Aemk 57
Paroxysmal Ataxia with Neuromyotonia 75
Episodic Ataxia with Myokymia; Eam 57
Ataxia, Episodic, with Myokymia 57
Myokymia with Periodic Ataxia 57
Ataxia, Episodic, Type 1 40
Myokymia Isolated 1 75
Episodic Ataxia 1 75
Aemk 75
Ea-1 75
Aem 57
Mk1 75

Characteristics:

Orphanet epidemiological data:

59
hereditary continuous muscle fiber activity
Age of onset: Childhood,Infancy;
episodic ataxia type 1
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
highly variable severity
symptoms precipitated by sudden movement, stress, exertion, fatigue, illness
typical attacks last from seconds to minutes, but longer occurrences have been reported
aura may occur
some patients may develop interictal progressive ataxia
variable response to acetazolamide and carbamazepine


HPO:

32
episodic ataxia, type 1:
Onset and clinical course variable expressivity juvenile onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Most individuals harboring a kcna1 pathogenic variant exhibit features of ea1; however, penetrance is incomplete...

Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 1

UniProtKB/Swiss-Prot : 75 Episodic ataxia 1: An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent. Myokymia isolated 1: A condition characterized by spontaneous involuntary contraction of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have no grave significance.

MalaCards based summary : Episodic Ataxia, Type 1, also known as episodic ataxia type 1, is related to episodic ataxia and episodic ataxia, type 7, and has symptoms including muscular fasciculation, muscle cramp and muscle rigidity. An important gene associated with Episodic Ataxia, Type 1 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 Omega 3 Fatty Acid and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and liver, and related phenotypes are diplopia and hyperhidrosis

OMIM : 57 Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). (160120)

GeneReviews: NBK25442

Related Diseases for Episodic Ataxia, Type 1

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 1:



Diseases related to Episodic Ataxia, Type 1

Symptoms & Phenotypes for Episodic Ataxia, Type 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
slurred speech
headache
spastic gait
more
Head And Neck Eyes:
blurred vision, episodic

Muscle Soft Tissue:
calf muscle enlargement
emg shows polyphasic continuous motor unit discharges
muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

Laboratory Abnormalities:
increased serum creatine kinase during episodes

Head And Neck Ears:
vertigo, episodic

Skeletal Hands:
hand posture resembling carpopedal spasm, episodic

Neurologic Peripheral Nervous System:
myokymia, interictal
jerking movements of face and limbs


Clinical features from OMIM:

160120

Human phenotypes related to Episodic Ataxia, Type 1:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
2 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 dysarthria 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001260
6 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
7 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
8 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
9 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
10 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
11 myotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002486
12 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
13 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
14 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
15 type 1 muscle fiber predominance 59 32 hallmark (90%) Very frequent (99-80%) HP:0003803
16 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
17 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
18 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
19 choreoathetosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001266
20 blurred vision 59 32 frequent (33%) Frequent (79-30%) HP:0000622
21 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
22 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
23 motor delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001270
24 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
25 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
26 poor coordination 59 32 hallmark (90%) Very frequent (99-80%) HP:0002370
27 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
28 hand clenching 59 32 occasional (7.5%) Occasional (29-5%) HP:0001188
29 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
30 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
31 calf muscle hypertrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008981
32 muscle stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0003552
33 craniofacial disproportion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005461
34 myokymia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002411
35 tip-toe gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0030051
36 tremor 32 HP:0001337
37 hyperreflexia 32 HP:0001347
38 scoliosis 59 Occasional (29-5%)
39 babinski sign 32 HP:0003487
40 abnormality of the hand 32 HP:0001155
41 episodic ataxia 32 HP:0002131

UMLS symptoms related to Episodic Ataxia, Type 1:


muscular fasciculation, muscle cramp, muscle rigidity, muscle spasticity, neuralgia, muscle weakness, muscular stiffness, myalgia, myokymia, ataxia, dizziness, headache, coarse tremor

MGI Mouse Phenotypes related to Episodic Ataxia, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
2 nervous system MP:0003631 9.17 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1

Drugs & Therapeutics for Episodic Ataxia, Type 1

Drugs for Episodic Ataxia, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Nutraceutical Phase 4
2
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
3
BCG vaccine Investigational Phase 2
4 Adjuvants, Immunologic Phase 2
5 Protective Agents Phase 2
6 Vaccines Phase 2
7 Viscosupplements Phase 2
8
Acetaminophen Approved Not Applicable 103-90-2 1983
9
Amlodipine Approved 88150-42-9 2162
10
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
11
Olmesartan Approved, Investigational 144689-24-7, 144689-63-4 158781 130881
12
Cetirizine Approved Not Applicable 83881-51-0 2678
13
Histamine Approved, Investigational Not Applicable 75614-87-8, 51-45-6 774
14
Propofol Approved, Investigational, Vet_approved Not Applicable 2078-54-8 4943
15
Remifentanil Approved Not Applicable 132875-61-7 60815
16
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
17
Methylprednisolone Approved, Vet_approved 83-43-2 6741
18
Prednisolone Approved, Vet_approved 50-24-8 5755
19 Simendan Investigational 131741-08-7
20
Substance P Investigational Not Applicable 33507-63-0 44359816
21 Hormone Antagonists Not Applicable
22 Hormones Not Applicable
23 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
24 Anesthetics Not Applicable
25 Analgesics Not Applicable
26 Analgesics, Non-Narcotic Not Applicable
27 Antipyretics Not Applicable
28 Peripheral Nervous System Agents Not Applicable
29 Antihypertensive Agents
30 diuretics
31 Mineralocorticoid Receptor Antagonists
32 Mineralocorticoids
33 Natriuretic Agents
34
Olmesartan medoxomil 144689-63-4 130881
35 Sodium Chloride Symporter Inhibitors
36 Anti-Arrhythmia Agents
37 Phosphodiesterase Inhibitors
38 Vasodilator Agents
39 Anti-Allergic Agents Not Applicable
40 Histamine Antagonists Not Applicable
41 Histamine H1 Antagonists Not Applicable
42 Histamine H1 Antagonists, Non-Sedating Not Applicable
43
Histamine Phosphate Not Applicable 51-74-1 65513
44 Neurotransmitter Agents Not Applicable
45 Anti-Bacterial Agents Not Applicable
46 Anti-Infective Agents Not Applicable
47 methicillin Not Applicable
48 Anesthetics, Local Not Applicable
49 Central Nervous System Depressants Not Applicable
50 neurokinin A Not Applicable

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Visual Acuity After the Combined Binocular Implantation of +2.75 Diopters and +3.25 Diopters Tecnis Multifocal Intraocular Lenses. Completed NCT02633072 Phase 4
2 Visual Acuity After the Combined Binocular Implantation of +2.5 Diopters and +3.0 Diopters ReSTOR Multifocal Intraocular Lenses. Completed NCT02314572 Phase 4
3 Influence of an Oral Nutritional Supplement Rich in Omega-3 Fatty Acids on Functional State and Quality of Life in Malnourished Patients With Gastroenterological Tumors Completed NCT00168987 Phase 4 oral nutritional supplement rich in eicosapentanoic acid
4 Healing of Burns and the Effect of Shockwave Therapy on the Recovery of Skin Grafts Completed NCT01242423 Phase 2, Phase 3
5 Influence of Hyaluronic Acid on Bacillus Calmette-Guérin Local Side Effects Completed NCT02207608 Phase 2 Hyaluronic Acid;BCG (Immucist®)
6 Effects of Weight Loss on Nutritional Mediated Hormone Secretion Unknown status NCT02649907 Not Applicable
7 Arthrocentesis Study Unknown status NCT02530229
8 Impact of Prewarming on Perioperative Body Core Temperature and the Outcomes of Cytoreductive- and Major Open Abdominal Surgery: A Randomised Trial Unknown status NCT02364219 Not Applicable
9 Therapy Adherence of APAP Therapy Initiation in Sleep-lab Versus at Home Unknown status NCT02339597 Not Applicable
10 Stroke Volume Analysis During Aortic Valve Replacement Trial Unknown status NCT02156856
11 Medication Adherence and "True" Resistance in Patients With Resistant Hypertension Unknown status NCT02128386
12 Influence of Transcranial Direct Current Stimulation on Cortical Plasticity in Concussed Athletes Unknown status NCT01593956 Not Applicable
13 Evaluation of a Combined Parent-student Programme for Smoking Prevention in Berlin Schools Unknown status NCT01306552 Not Applicable
14 Sentinel Concept in Early Stage Cervical Cancer Unknown status NCT01157962 Not Applicable
15 AUTO-ACUSAR - Effects of Acupuncture on the Autonomic Nervous System in Seasonal Allergic Rhinitis Patients Unknown status NCT01271595 Not Applicable
16 Renal Effects of Levosimendan in Cardiac Surgery Patients Completed NCT01918618
17 Levosimendan Administration and Outcome in Cardiac Surgery Completed NCT02275013 Levosimendan
18 Emotional Processing in Multiple Sclerosis / Clinically Isolated Syndrome: A Neuropsychological fMRI-study Completed NCT02695394
19 An Animated Home-based Physical Exercise Program as a Treatment Option for Patients With Rheumatoid Arthritis Completed NCT02658370 Not Applicable
20 EVENT - Evaluation of the Influence of hTEE Completed NCT02046954
21 Transcranial Direct Current Stimulation on Cortical Plasticity in Patients With Anti-NMDA Receptor Encephalitis Completed NCT01865578 Not Applicable
22 Art Therapy in Acute Schizophrenia Completed NCT01622166 Not Applicable
23 Effectiveness of Intensive Aphasia Therapy Under Routine Clinical Conditions Completed NCT01540383 Not Applicable
24 Clinical-genetic Investigations in Children With Early Infantile Epilepsies Completed NCT01357707
25 Low Grade Inflammation, Gut Microbiota and Barrier Function in Elderly Humans Completed NCT01218165 Early Phase 1
26 New E-Service for a Dietary Approach to the Elderly Completed NCT01179789 Early Phase 1
27 Coronary CT Angiography Using 320-Row Volume CT in Patients With Atrial Fibrillation Completed NCT00968279
28 Coronary Artery Stent Evaluation With 320-slice Computed Tomography - The CArS 320 Study Completed NCT00967876
29 The Effect of Physical Therapy on Raynaud`s Phenomenon Secondary to Systemic Sclerosis Completed NCT00946738 Not Applicable
30 320-slice Coronary Computed Tomography (CT) Angiography Completed NCT00721851
31 Claustrophobia and Magnetic Resonance Imaging Completed NCT00715806 Not Applicable
32 Acupuncture for Seasonal Allergic Rhinitis Completed NCT00610584 Not Applicable cetirizine dihydrochloride (rescue medication)
33 Validation of Stroke Volume Measurement by a New Noninvasive Hemodynamic Monitoring System (NexFin)in Comparison to Different Invasive Procedures as Picco2, FloTrac and TEE Completed NCT01263990 Not Applicable
34 Cesarean-scar Thickness and Closure Technique Completed NCT02338388 Not Applicable
35 Prediction of Claustrophobia During MR Imaging Completed NCT01367067
36 Thermal Management in Patients With Interventional Minimally Invasive Valve Replacement Completed NCT01176110 Not Applicable
37 Electroacupuncture for Acute Pancreatitis Recruiting NCT03173222 Not Applicable
38 Plethysmographic Pulse-contour and Pulse-wave-transit-times for Haemodynamic Evaluation in Bleeding Simulation Recruiting NCT03481855
39 Methicillin-sensitive and Methicillin-resistant Staphylococcus Aureus (MSSA/MRSA) - Point-of-care-testing (POCT) in Clinical Decision Making Recruiting NCT03220386 Not Applicable
40 Systematic Screening for Comorbid Psychological Conditions in Cardiac ACSC Patients With Multimorbidity in the ED Recruiting NCT03188861
41 Regional Anaesthesia and Substance P in Head and Neck Cancer Recruiting NCT03081897 Not Applicable SPRANC Block group;SPRANC Control group
42 Cause and Importance of the Age-dependent Sarcopenia Recruiting NCT02994901
43 Glucocorticoid-induced Osteoporosis in Patients With Chronic Inflammatory Rheumatic Diseases or Psoriasis Recruiting NCT02719314 Glucocorticoid treatment
44 Modified Psychodynamic Psychotherapy for Patients With Schizophrenia Recruiting NCT02576613 Not Applicable
45 Diagnostic Imaging Strategies for Patients With Stable Chest Pain and Intermediate Risk of Coronary Artery Disease Recruiting NCT02400229 Not Applicable
46 Longitudinal MRI Examinations of Patients With Brain Ischemia and Blood Brain Barrier Permeability Recruiting NCT02077582
47 HIP Surgery - Hemodynamic Optimization Project Recruiting NCT01753050 Not Applicable
48 Retrospective Evaluation of POCD Data of Studies From KAI, Charité - Universitätsmedizin Berlin Recruiting NCT02832193
49 Longitudinal Cohort Study - for the Treatment of Acute Postoperative Pain and Postoperative Delirium, Postoperative Cognitive Dysfunctions, and Chronic Pain. Recruiting NCT03133858
50 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Episodic Ataxia, Type 1

Cochrane evidence based reviews: isaacs syndrome

Genetic Tests for Episodic Ataxia, Type 1

Genetic tests related to Episodic Ataxia, Type 1:

# Genetic test Affiliating Genes
1 Episodic Ataxia Type 1 29 KCNA1

Anatomical Context for Episodic Ataxia, Type 1

MalaCards organs/tissues related to Episodic Ataxia, Type 1:

41
Skin, Brain, Liver, Testes

Publications for Episodic Ataxia, Type 1

Articles related to Episodic Ataxia, Type 1:

(show all 25)
# Title Authors Year
1
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels. ( 26778656 )
2016
2
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. ( 25659636 )
2015
3
New insights into the pathogenesis and therapeutics of episodic ataxia type 1. ( 26347608 )
2015
4
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. ( 24578548 )
2014
5
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations. ( 23909822 )
2013
6
Ion channel disorders: still a fascinating topic--news on episodic ataxia type 1. ( 23457223 )
2013
7
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1. ( 23349320 )
2013
8
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. ( 21307345 )
2011
9
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. ( 21282599 )
2011
10
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. ( 21106501 )
2010
11
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. ( 20660867 )
2010
12
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. ( 19779067 )
2009
13
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. ( 18926884 )
2008
14
Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. ( 16956965 )
2007
15
Episodic ataxia type 1: a neuronal potassium channelopathy. ( 17395136 )
2007
16
Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2. ( 17156368 )
2006
17
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. ( 15127317 )
2004
18
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. ( 12077175 )
2002
19
Clinical features of a large Australian pedigree with episodic ataxia type 1. ( 11746627 )
2001
20
Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem. ( 11013453 )
2000
21
Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy. ( 10414318 )
1999
22
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. ( 10355668 )
1999
23
Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1). ( 10383630 )
1999
24
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). ( 9390841 )
1997
25
Episodic Ataxia Type 1 ( 20301785 )
1993

Variations for Episodic Ataxia, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 1:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 KCNA1 p.Val174Phe VAR_001508 rs104894349
2 KCNA1 p.Ile177Arg VAR_001509
3 KCNA1 p.Thr226Ala VAR_001510 rs104894354
4 KCNA1 p.Arg239Ser VAR_001511 rs104894348
5 KCNA1 p.Phe249Ile VAR_001512 rs104894356
6 KCNA1 p.Val404Ile VAR_001513 rs104894355
7 KCNA1 p.Val408Ala VAR_001514 rs104894352
8 KCNA1 p.Phe184Cys VAR_020830 rs104894357
9 KCNA1 p.Thr226Met VAR_020831 rs28933383
10 KCNA1 p.Glu325Asp VAR_020832 rs104894353
11 KCNA1 p.Leu329Ile VAR_020833
12 KCNA1 p.Ser342Ile VAR_020834
13 KCNA1 p.Thr226Lys VAR_037100 rs28933383
14 KCNA1 p.Thr226Arg VAR_037101 rs28933383
15 KCNA1 p.Ala242Pro VAR_037102 rs28933381
16 KCNA1 p.Pro244His VAR_037103 rs28933382
17 KCNA1 p.Asn255Asp VAR_072397 rs121918067

ClinVar genetic disease variations for Episodic Ataxia, Type 1:

6
(show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA1 NM_000217.2(KCNA1): c.1223T> C (p.Val408Ala) single nucleotide variant Pathogenic rs104894352 GRCh37 Chromosome 12, 5021767: 5021767
2 KCNA1 NM_000217.2(KCNA1): c.1223T> C (p.Val408Ala) single nucleotide variant Pathogenic rs104894352 GRCh38 Chromosome 12, 4912601: 4912601
3 KCNA1 NM_000217.2(KCNA1): c.715C> A (p.Arg239Ser) single nucleotide variant Pathogenic rs104894348 GRCh37 Chromosome 12, 5021259: 5021259
4 KCNA1 NM_000217.2(KCNA1): c.715C> A (p.Arg239Ser) single nucleotide variant Pathogenic rs104894348 GRCh38 Chromosome 12, 4912093: 4912093
5 KCNA1 NM_000217.2(KCNA1): c.520G> T (p.Val174Phe) single nucleotide variant Pathogenic rs104894349 GRCh37 Chromosome 12, 5021064: 5021064
6 KCNA1 NM_000217.2(KCNA1): c.520G> T (p.Val174Phe) single nucleotide variant Pathogenic rs104894349 GRCh38 Chromosome 12, 4911898: 4911898
7 KCNA1 NM_000217.2(KCNA1): c.745T> A (p.Phe249Ile) single nucleotide variant Pathogenic rs104894356 GRCh37 Chromosome 12, 5021289: 5021289
8 KCNA1 NM_000217.2(KCNA1): c.745T> A (p.Phe249Ile) single nucleotide variant Pathogenic rs104894356 GRCh38 Chromosome 12, 4912123: 4912123
9 KCNA1 NM_000217.2(KCNA1): c.551T> G (p.Phe184Cys) single nucleotide variant Pathogenic rs104894357 GRCh37 Chromosome 12, 5021095: 5021095
10 KCNA1 NM_000217.2(KCNA1): c.551T> G (p.Phe184Cys) single nucleotide variant Pathogenic rs104894357 GRCh38 Chromosome 12, 4911929: 4911929
11 KCNA1 NM_000217.2(KCNA1): c.975G> C (p.Glu325Asp) single nucleotide variant Pathogenic rs104894353 GRCh37 Chromosome 12, 5021519: 5021519
12 KCNA1 NM_000217.2(KCNA1): c.975G> C (p.Glu325Asp) single nucleotide variant Pathogenic rs104894353 GRCh38 Chromosome 12, 4912353: 4912353
13 KCNA1 NM_000217.2(KCNA1): c.676A> G (p.Thr226Ala) single nucleotide variant Pathogenic rs104894354 GRCh37 Chromosome 12, 5021220: 5021220
14 KCNA1 NM_000217.2(KCNA1): c.676A> G (p.Thr226Ala) single nucleotide variant Pathogenic rs104894354 GRCh38 Chromosome 12, 4912054: 4912054
15 KCNA1 NM_000217.2(KCNA1): c.1210G> A (p.Val404Ile) single nucleotide variant Pathogenic rs104894355 GRCh37 Chromosome 12, 5021754: 5021754
16 KCNA1 NM_000217.2(KCNA1): c.1210G> A (p.Val404Ile) single nucleotide variant Pathogenic rs104894355 GRCh38 Chromosome 12, 4912588: 4912588
17 KCNA1 NM_000217.2(KCNA1): c.530T> A (p.Ile177Asn) single nucleotide variant Pathogenic rs267607195 GRCh37 Chromosome 12, 5021074: 5021074
18 KCNA1 NM_000217.2(KCNA1): c.530T> A (p.Ile177Asn) single nucleotide variant Pathogenic rs267607195 GRCh38 Chromosome 12, 4911908: 4911908
19 KCNA1 NM_000217.2(KCNA1): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs104894358 GRCh37 Chromosome 12, 5021793: 5021793
20 KCNA1 NM_000217.2(KCNA1): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs104894358 GRCh38 Chromosome 12, 4912627: 4912627
21 KCNA1 NM_000217.2(KCNA1): c.677C> G (p.Thr226Arg) single nucleotide variant Pathogenic rs28933383 GRCh37 Chromosome 12, 5021221: 5021221
22 KCNA1 NM_000217.2(KCNA1): c.677C> G (p.Thr226Arg) single nucleotide variant Pathogenic rs28933383 GRCh38 Chromosome 12, 4912055: 4912055
23 KCNA1 NM_000217.2(KCNA1): c.1222G> T (p.Val408Leu) single nucleotide variant Pathogenic rs113994117 GRCh37 Chromosome 12, 5021766: 5021766
24 KCNA1 NM_000217.2(KCNA1): c.1222G> T (p.Val408Leu) single nucleotide variant Pathogenic rs113994117 GRCh38 Chromosome 12, 4912600: 4912600
25 KCNA1 NM_000217.2(KCNA1): c.1241T> G (p.Phe414Cys) single nucleotide variant Pathogenic rs113994118 GRCh37 Chromosome 12, 5021785: 5021785
26 KCNA1 NM_000217.2(KCNA1): c.1241T> G (p.Phe414Cys) single nucleotide variant Pathogenic rs113994118 GRCh38 Chromosome 12, 4912619: 4912619
27 KCNA1 NM_000217.2(KCNA1): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs28933383 GRCh37 Chromosome 12, 5021221: 5021221
28 KCNA1 NM_000217.2(KCNA1): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs28933383 GRCh38 Chromosome 12, 4912055: 4912055
29 KCNA1 NM_000217.2(KCNA1): c.748_750delTTC (p.Phe250del) deletion Pathogenic rs113994120 GRCh37 Chromosome 12, 5021292: 5021294
30 KCNA1 NM_000217.2(KCNA1): c.748_750delTTC (p.Phe250del) deletion Pathogenic rs113994120 GRCh38 Chromosome 12, 4912126: 4912128
31 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh37 Chromosome 12, 5021840: 5021840
32 KCNA1 NM_000217.2(KCNA1): c.1296C> G (p.Ser432=) single nucleotide variant Benign rs76066681 GRCh38 Chromosome 12, 4912674: 4912674
33 KCNA1 NM_000217.2(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 GRCh37 Chromosome 12, 5022008: 5022008
34 KCNA1 NM_000217.2(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 GRCh38 Chromosome 12, 4912842: 4912842
35 KCNA1 NM_000217.2(KCNA1): c.1125C> T (p.Tyr375=) single nucleotide variant Likely benign rs144351014 GRCh37 Chromosome 12, 5021669: 5021669
36 KCNA1 NM_000217.2(KCNA1): c.1125C> T (p.Tyr375=) single nucleotide variant Likely benign rs144351014 GRCh38 Chromosome 12, 4912503: 4912503
37 KCNA1 NM_000217.2(KCNA1): c.53A> C (p.His18Pro) single nucleotide variant Uncertain significance rs367921276 GRCh37 Chromosome 12, 5020597: 5020597
38 KCNA1 NM_000217.2(KCNA1): c.53A> C (p.His18Pro) single nucleotide variant Uncertain significance rs367921276 GRCh38 Chromosome 12, 4911431: 4911431
39 KCNA1 NM_000217.2(KCNA1): c.1183G> T (p.Ala395Ser) single nucleotide variant Likely pathogenic rs1135401950 GRCh38 Chromosome 12, 4912561: 4912561
40 KCNA1 NM_000217.2(KCNA1): c.1183G> T (p.Ala395Ser) single nucleotide variant Likely pathogenic rs1135401950 GRCh37 Chromosome 12, 5021727: 5021727
41 KCNA1 NM_000217.2(KCNA1): c.60G> C (p.Gln20His) single nucleotide variant Uncertain significance rs201504073 GRCh37 Chromosome 12, 5020604: 5020604
42 KCNA1 NM_000217.2(KCNA1): c.60G> C (p.Gln20His) single nucleotide variant Uncertain significance rs201504073 GRCh38 Chromosome 12, 4911438: 4911438
43 KCNA1 NM_000217.2(KCNA1): c.393G> A (p.Arg131=) single nucleotide variant Benign/Likely benign rs142184899 GRCh38 Chromosome 12, 4911771: 4911771
44 KCNA1 NM_000217.2(KCNA1): c.393G> A (p.Arg131=) single nucleotide variant Benign/Likely benign rs142184899 GRCh37 Chromosome 12, 5020937: 5020937
45 KCNA1 NM_000217.2(KCNA1): c.224C> A (p.Pro75His) single nucleotide variant Uncertain significance rs897263951 GRCh38 Chromosome 12, 4911602: 4911602
46 KCNA1 NM_000217.2(KCNA1): c.224C> A (p.Pro75His) single nucleotide variant Uncertain significance rs897263951 GRCh37 Chromosome 12, 5020768: 5020768
47 KCNA1 NM_000217.2(KCNA1): c.624_626delCAC (p.Thr209del) deletion Uncertain significance GRCh38 Chromosome 12, 4912002: 4912004
48 KCNA1 NM_000217.2(KCNA1): c.624_626delCAC (p.Thr209del) deletion Uncertain significance GRCh37 Chromosome 12, 5021168: 5021170
49 KCNA1 NM_000217.2(KCNA1): c.868_872delATCCTinsTC (p.Ile290_Leu291delinsSer) indel Uncertain significance GRCh37 Chromosome 12, 5021412: 5021416
50 KCNA1 NM_000217.2(KCNA1): c.868_872delATCCTinsTC (p.Ile290_Leu291delinsSer) indel Uncertain significance GRCh38 Chromosome 12, 4912246: 4912250

Expression for Episodic Ataxia, Type 1

Search GEO for disease gene expression data for Episodic Ataxia, Type 1.

Pathways for Episodic Ataxia, Type 1

GO Terms for Episodic Ataxia, Type 1

Cellular components related to Episodic Ataxia, Type 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.71 CACNA1A KCNA1 KCNA2 KCNA4
2 synapse GO:0045202 9.69 CACNA1A KCNA1 KCNA2
3 dendrite GO:0030425 9.65 CACNA1A KCNA1 KCNA2
4 neuronal cell body GO:0043025 9.63 CACNA1A KCNA1 KCNAB1
5 axon GO:0030424 9.56 KCNA1 KCNA2 KCNA4 KCNAB1
6 perikaryon GO:0043204 9.5 KCNA1 KCNA2 KCNAB1
7 presynaptic membrane GO:0042734 9.49 KCNA1 KCNA2
8 voltage-gated potassium channel complex GO:0008076 9.46 KCNA1 KCNA2 KCNA4 KCNAB1
9 axon terminus GO:0043679 9.43 KCNA1 KCNA2
10 voltage-gated calcium channel complex GO:0005891 9.37 CACNA1A CACNB4
11 potassium channel complex GO:0034705 9.13 KCNA1 KCNA2 KCNAB1
12 juxtaparanode region of axon GO:0044224 8.8 KCNA1 KCNA2 KCNAB1
13 plasma membrane GO:0005886 10 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1

Biological processes related to Episodic Ataxia, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1
2 chemical synaptic transmission GO:0007268 9.65 CACNA1A CACNB4 KCNA1
3 protein homooligomerization GO:0051260 9.61 KCNA1 KCNA2 KCNA4
4 potassium ion transport GO:0006813 9.56 KCNA1 KCNA2 KCNA4 KCNAB1
5 neuronal action potential GO:0019228 9.46 KCNA1 KCNA2
6 potassium ion transmembrane transport GO:0071805 9.46 KCNA1 KCNA2 KCNA4 KCNAB1
7 ion transport GO:0006811 9.43 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1
8 neuromuscular process GO:0050905 9.4 CACNA1A KCNA1
9 membrane depolarization GO:0051899 9.37 CACNA1A CACNB4
10 regulation of ion transmembrane transport GO:0034765 9.1 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1

Molecular functions related to Episodic Ataxia, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.43 KCNA1 KCNA2 KCNA4
2 calcium channel activity GO:0005262 9.4 CACNA1A CACNB4
3 voltage-gated calcium channel activity GO:0005245 9.37 CACNA1A CACNB4
4 delayed rectifier potassium channel activity GO:0005251 9.33 KCNA1 KCNA2 KCNA4
5 high voltage-gated calcium channel activity GO:0008331 9.32 CACNA1A CACNB4
6 voltage-gated potassium channel activity GO:0005249 9.26 KCNA1 KCNA2 KCNA4 KCNAB1
7 voltage-gated ion channel activity GO:0005244 9.02 CACNA1A KCNA1 KCNA2 KCNA4 KCNAB1

Sources for Episodic Ataxia, Type 1

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