EA1
MCID: EPS042
MIFTS: 58

Episodic Ataxia, Type 1 (EA1)

Categories: Genetic diseases, Muscle 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 54
Episodic Ataxia Type 1 12 25 58 29 6 15 70
Episodic Ataxia/myokymia Syndrome 57 29 13
Episodic Ataxia with Myokymia 57 58 72
Ea1 57 25 72
Isaacs Syndrome 44 70
Eam 57 72
Paroxysmal Ataxia with Neuromyotonia, Hereditary 57
Continuous Muscle Fiber Activity, Hereditary 70
Hereditary Continuous Muscle Fiber Activity 58
Ataxia, Episodic, with Myokymia; Aem; Aemk 57
Paroxysmal Ataxia with Neuromyotonia 72
Episodic Ataxia with Myokymia; Eam 57
Ataxia, Episodic, with Myokymia 57
Myokymia with Periodic Ataxia 57
Ataxia, Episodic, Type 1 39
Myokymia Isolated 1 72
Episodic Ataxia 1 72
Aemk 72
Ea-1 72
Aem 57
Mk1 72

Characteristics:

Orphanet epidemiological data:

58
hereditary continuous muscle fiber activity
Age of onset: Childhood,Infancy;
episodic ataxia type 1
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
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:

31
episodic ataxia, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity juvenile onset


GeneReviews:

25
Penetrance Most individuals harboring a kcna1 pathogenic variant exhibit features of ea1; however, penetrance is incomplete.

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 1

UniProtKB/Swiss-Prot : 72 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, type 2 and dystonia, and has symptoms including ataxia, muscle weakness and myalgia. 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 Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include cortex, kidney and heart, and related phenotypes are postural instability and poor coordination

Disease Ontology : 12 An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has material basis in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.

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) (Updated 20-May-2021)

GeneReviews: NBK25442

Related Diseases for Episodic Ataxia, Type 1

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
Episodic Ataxia, Type 9 Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 29.6 PNKD KCNC3 KCNA1 CACNB4 CACNA1A
2 dystonia 29.5 PNKD KCNQ2 KCND3 KCNA4 CACNA1A
3 episodic ataxia 28.9 PNKD KCNQ3 KCNQ2 KCND3 KCNC3 KCNC1
4 hereditary continuous muscle fiber activity 11.6
5 neuromyotonia and axonal neuropathy, autosomal recessive 11.1
6 ataxia and polyneuropathy, adult-onset 10.8
7 seizures, benign familial neonatal, 1 10.6
8 thymoma, familial 10.3
9 thymoma 10.3
10 hereditary episodic ataxia 10.3 KCNA1 CACNA1A
11 episodic ataxia, type 7 10.3 KCNA1 CACNA1A
12 myasthenia gravis 10.3
13 kcnq2-related disorders 10.3 KCNQ3 KCNQ2
14 seizures, benign familial neonatal, 2 10.2 KCNQ3 KCNQ2
15 convulsions benign familial neonatal dominant form 10.2 KCNQ3 KCNQ2
16 cerebellar ataxia type 9 10.2 KCND3 KCNC3
17 autoimmune myocarditis 10.2
18 myocarditis 10.2
19 cerebellar ataxia type 41 10.2 KCND3 KCNC3
20 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.2 KCNQ3 KCNQ2
21 episodic ataxia, type 5 10.2 CACNB4 CACNA1A
22 early onset absence epilepsy 10.2 KCNQ3 KCNQ2
23 stiff-person syndrome 10.2
24 exanthem 10.2
25 tremor 10.2
26 neuropathy, hereditary sensory and autonomic, type vii 10.2 KCNV2 CACNA1A
27 epilepsy, nocturnal frontal lobe, 1 10.2 KCNQ3 KCNQ2 KCNA1
28 spinocerebellar ataxia 30 10.2 KCND3 CACNA1A
29 eastern equine encephalitis 10.1 KCNQ3 KCNQ2
30 partial motor epilepsy 10.1 KCNV2 KCNQ2
31 infancy electroclinical syndrome 10.1 KCNQ3 KCNQ2 CACNA1A
32 cerebellar ataxia type 42 10.1 KCND3 KCNC3 CACNA1A
33 photosensitive epilepsy 10.1 KCNQ3 KCNQ2 CACNA1A
34 spinocerebellar ataxia 6 10.1 KCNA1 CACNB4 CACNA1A
35 spinocerebellar ataxia type 19/22 10.1 KCND3 KCNC1
36 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
37 limbic encephalitis 10.1
38 episodic ataxia, type 6 10.1 KCNC3 CACNB4 CACNA1A
39 migraine, familial hemiplegic, 3 10.1 KCNV2 KCNA1 CACNA1A
40 lymphoma, hodgkin, classic 10.1
41 lymphoma 10.1
42 hemidystonia 10.1 PNKD CACNA1A
43 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 KCNV2 KCNA1
44 dengue virus 10.1
45 migraine, familial hemiplegic, 1 10.1 KCNA1 CACNA1A
46 nephronophthisis 4 10.0 KCNV2 KCNAB2
47 muscle hypertrophy 10.0
48 polyneuropathy 10.0
49 chronic inflammatory demyelinating polyradiculoneuropathy 10.0
50 demyelinating polyneuropathy 10.0

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

Human phenotypes related to Episodic Ataxia, Type 1:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
2 poor coordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0002370
3 myokymia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002411
4 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
5 hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000975
6 dysarthria 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001260
7 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
8 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
9 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
10 clumsiness 58 31 frequent (33%) Frequent (79-30%) HP:0002312
11 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622
12 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
13 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
14 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
15 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
16 myotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002486
17 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
18 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
19 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
20 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
21 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
22 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
23 calf muscle hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008981
24 hand clenching 58 31 occasional (7.5%) Occasional (29-5%) HP:0001188
25 tip-toe gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0030051
26 craniofacial disproportion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005461
27 slurred speech 58 31 Frequent (79-30%) HP:0001350
28 elevated serum creatine kinase 58 31 Very frequent (99-80%) HP:0003236
29 spastic gait 58 31 Very frequent (99-80%) HP:0002064
30 seizures 58 Occasional (29-5%)
31 hyperreflexia 31 HP:0001347
32 scoliosis 58 Occasional (29-5%)
33 ataxia 58 Frequent (79-30%)
34 tremor 31 HP:0001337
35 abnormality of movement 58 Very frequent (99-80%)
36 emg abnormality 58 Very frequent (99-80%)
37 type 1 muscle fiber predominance 58 Very frequent (99-80%)
38 congenital diaphragmatic hernia 58 Occasional (29-5%)
39 babinski sign 31 HP:0003487
40 abnormality of the hand 31 HP:0001155
41 episodic ataxia 31 HP:0002131
42 incoordination 31 HP:0002311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
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 (Updated 20-May-2021)

UMLS symptoms related to Episodic Ataxia, Type 1:


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

GenomeRNAi Phenotypes related to Episodic Ataxia, Type 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 10.1 CACNA1A KCNA10 KCNA2 KCNB1 KCNC4 KCND3
2 Decreased shRNA abundance GR00251-A-2 10.1 CACNA1A KCNA10 KCNA2 KCNB1 KCNC4 KCND3
3 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 KCNA10 KCNA4 KCNC3 KCNC4 KCNQ3

MGI Mouse Phenotypes related to Episodic Ataxia, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 CACNA1A CACNB4 KCNA1 KCNA10 KCNA2 KCNA4
2 growth/size/body region MP:0005378 9.73 CACNA1A CACNB4 KCNA1 KCNA10 KCNA2 KCNAB2
3 nervous system MP:0003631 9.47 CACNA1A CACNB4 KCNA1 KCNA2 KCNA4 KCNAB1

Drugs & Therapeutics for Episodic Ataxia, Type 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
2 A Clinical Study of Electroacupuncture for Abdominal Pain Relief in Patients With Acute Pancreatitis Completed NCT03173222

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
2 Episodic Ataxia/myokymia Syndrome 29

Anatomical Context for Episodic Ataxia, Type 1

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

40
Cortex, Kidney, Heart, Myeloid, Brain, Thyroid

Publications for Episodic Ataxia, Type 1

Articles related to Episodic Ataxia, Type 1:

(show top 50) (show all 141)
# Title Authors PMID Year
1
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. 57 6 25 61
11026449 2000
2
Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. 25 6 57
17136396 2007
3
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. 6 57 25
7842011 1994
4
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. 54 61 6 25
10355668 1999
5
Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. 57 25 61
20660867 2010
6
A mouse model of episodic ataxia type-1. 61 25 57
12612586 2003
7
Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. 54 6 61
19779067 2009
8
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. 25 57
19307729 2009
9
Episodic ataxia results from voltage-dependent potassium channels with altered functions. 25 6
8845167 1995
10
Hereditary myokymia and periodic ataxia. 25 57
1170284 1975
11
Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. 61 25 54
16956965 2007
12
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. 25 54 61
17156368 2006
13
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). 61 57
9390841 1997
14
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. 25 61
30055040 2018
15
Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype. 25 61
30363417 2017
16
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions. 61 25
28666963 2017
17
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia. 25 61
28676720 2017
18
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia. 25 61
27477325 2016
19
A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. 61 25
27271339 2016
20
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. 25 61
25659636 2015
21
New insights into the pathogenesis and therapeutics of episodic ataxia type 1. 61 25
26347608 2015
22
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. 25 61
24578548 2014
23
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene. 61 25
25642194 2014
24
Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. 25 61
22609489 2012
25
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. 25 61
21307345 2011
26
Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. 61 25
21106501 2010
27
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. 61 25
19205071 2009
28
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. 61 25
18926884 2008
29
Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. 25 61
17912752 2008
30
Primary episodic ataxias: diagnosis, pathogenesis and treatment. 57
17575281 2007
31
Episodic ataxia type 1: a neuronal potassium channelopathy. 25 61
17395136 2007
32
Diagnosis and management of acute movement disorders. 61 25
16208529 2005
33
Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex. 61 25
15843481 2005
34
A novel mutation in KCNA1 causes episodic ataxia without myokymia. 25 61
15532032 2004
35
An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+. 25 61
15474044 2004
36
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. 25 61
15351427 2004
37
Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. 61 25
15127317 2004
38
Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. 25 61
12799903 2003
39
Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation. 61 25
12077175 2002
40
Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. 25 61
11773313 2002
41
Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. 25 61
11679591 2001
42
Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function. 61 25
10428758 1999
43
Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. 61 25
9482717 1998
44
Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. 57
7561920 1995
45
Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. 6
8541859 1995
46
A gene for episodic ataxia/myokymia maps to chromosome 12p13. 57
7942848 1994
47
Hereditary paroxysmal ataxia with neuromyotonia. 57
1647493 1991
48
Familial paroxysmal kinesigenic ataxia and continuous myokymia. 57
2245301 1990
49
Autosomal dominant episodic ataxia: a heterogeneous syndrome. 57
3504247 1986
50
Hereditary continuous muscle fiber activity. 57
6703941 1984

Variations for Episodic Ataxia, Type 1

ClinVar genetic disease variations for Episodic Ataxia, Type 1:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNA1 NM_000217.3(KCNA1):c.724G>C (p.Ala242Pro) SNV Pathogenic 13489 rs28933381 GRCh37: 12:5021268-5021268
GRCh38: 12:4912102-4912102
2 KCNA1 NM_000217.3(KCNA1):c.731C>A (p.Pro244His) SNV Pathogenic 13490 rs28933382 GRCh37: 12:5021275-5021275
GRCh38: 12:4912109-4912109
3 KCNA1 NM_000217.3(KCNA1):c.677C>A (p.Thr226Lys) SNV Pathogenic 13493 rs28933383 GRCh37: 12:5021221-5021221
GRCh38: 12:4912055-4912055
4 KCNA1 NM_000217.3(KCNA1):c.715C>A (p.Arg239Ser) SNV Pathogenic 13481 rs104894348 GRCh37: 12:5021259-5021259
GRCh38: 12:4912093-4912093
5 KCNA1 NM_000217.3(KCNA1):c.520G>T (p.Val174Phe) SNV Pathogenic 13482 rs104894349 GRCh37: 12:5021064-5021064
GRCh38: 12:4911898-4911898
6 KCNA1 NM_000217.3(KCNA1):c.745T>A (p.Phe249Ile) SNV Pathogenic 13483 rs104894356 GRCh37: 12:5021289-5021289
GRCh38: 12:4912123-4912123
7 KCNA1 NM_000217.3(KCNA1):c.551T>G (p.Phe184Cys) SNV Pathogenic 13484 rs104894357 GRCh37: 12:5021095-5021095
GRCh38: 12:4911929-4911929
8 KCNA1 NM_000217.3(KCNA1):c.975G>C (p.Glu325Asp) SNV Pathogenic 13485 rs104894353 GRCh37: 12:5021519-5021519
GRCh38: 12:4912353-4912353
9 KCNA1 NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) SNV Pathogenic 13486 rs104894354 GRCh37: 12:5021220-5021220
GRCh38: 12:4912054-4912054
10 KCNA1 NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile) SNV Pathogenic 13487 rs104894355 GRCh37: 12:5021754-5021754
GRCh38: 12:4912588-4912588
11 KCNA1 NM_000217.3(KCNA1):c.530T>A (p.Ile177Asn) SNV Pathogenic 13488 rs267607195 GRCh37: 12:5021074-5021074
GRCh38: 12:4911908-4911908
12 KCNA1 NM_000217.3(KCNA1):c.1249C>T (p.Arg417Ter) SNV Pathogenic 13491 rs104894358 GRCh37: 12:5021793-5021793
GRCh38: 12:4912627-4912627
13 KCNA1 NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) SNV Pathogenic 13492 rs28933383 GRCh37: 12:5021221-5021221
GRCh38: 12:4912055-4912055
14 KCNA1 NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) SNV Pathogenic 21127 rs28933383 GRCh37: 12:5021221-5021221
GRCh38: 12:4912055-4912055
15 KCNA1 NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala) SNV Pathogenic 13480 rs104894352 GRCh37: 12:5021767-5021767
GRCh38: 12:4912601-4912601
16 KCNA1 NM_000217.3(KCNA1):c.1183G>T (p.Ala395Ser) SNV Likely pathogenic 431378 rs1135401950 GRCh37: 12:5021727-5021727
GRCh38: 12:4912561-4912561
17 KCNA1 NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) SNV Conflicting interpretations of pathogenicity 309148 rs147828649 GRCh37: 12:5022008-5022008
GRCh38: 12:4912842-4912842
18 KCNA1 NM_000217.3(KCNA1):c.60G>C (p.Gln20His) SNV Conflicting interpretations of pathogenicity 447612 rs201504073 GRCh37: 12:5020604-5020604
GRCh38: 12:4911438-4911438
19 KCNA1 NM_000217.3(KCNA1):c.599G>C (p.Gly200Ala) SNV Uncertain significance 532541 rs1411072418 GRCh37: 12:5021143-5021143
GRCh38: 12:4911977-4911977
20 KCNA1 NM_000217.3(KCNA1):c.1455C>A (p.Cys485Ter) SNV Uncertain significance 573063 rs1406153214 GRCh37: 12:5021999-5021999
GRCh38: 12:4912833-4912833
21 KCNA1 NM_000217.3(KCNA1):c.559G>A (p.Glu187Lys) SNV Uncertain significance 573452 rs1565433190 GRCh37: 12:5021103-5021103
GRCh38: 12:4911937-4911937
22 KCNA1 NM_000217.3(KCNA1):c.964A>C (p.Ser322Arg) SNV Uncertain significance 577805 rs1565433425 GRCh37: 12:5021508-5021508
GRCh38: 12:4912342-4912342
23 KCNA1 NM_000217.3(KCNA1):c.868_872delinsTC (p.Ile290_Leu291delinsSer) Indel Uncertain significance 463866 rs1555085756 GRCh37: 12:5021412-5021416
GRCh38: 12:4912246-4912250
24 KCNA1 NM_000217.3(KCNA1):c.53A>C (p.His18Pro) SNV Uncertain significance 374425 rs367921276 GRCh37: 12:5020597-5020597
GRCh38: 12:4911431-4911431
25 KCNA1 NM_000217.3(KCNA1):c.224C>A (p.Pro75His) SNV Uncertain significance 463862 rs897263951 GRCh37: 12:5020768-5020768
GRCh38: 12:4911602-4911602
26 KCNA1 NM_000217.3(KCNA1):c.370G>A (p.Glu124Lys) SNV Uncertain significance 463863 rs1555085687 GRCh37: 12:5020914-5020914
GRCh38: 12:4911748-4911748
27 KCNA1 NM_000217.3(KCNA1):c.621_623CAC[1] (p.Thr209del) Microsatellite Uncertain significance 463864 rs1555085716 GRCh37: 12:5021165-5021167
GRCh38: 12:4911999-4912001
28 KCNA1 NM_000217.3(KCNA1):c.136C>A (p.Leu46Met) SNV Uncertain significance 639858 rs149959487 GRCh37: 12:5020680-5020680
GRCh38: 12:4911514-4911514
29 KCNA1 NM_000217.3(KCNA1):c.30C>G (p.Asp10Glu) SNV Uncertain significance 642028 rs1471834737 GRCh37: 12:5020574-5020574
GRCh38: 12:4911408-4911408
30 KCNA1 NM_000217.3(KCNA1):c.1397C>A (p.Ala466Asp) SNV Uncertain significance 642349 rs1303950325 GRCh37: 12:5021941-5021941
GRCh38: 12:4912775-4912775
31 KCNA1 NM_000217.3(KCNA1):c.1207C>A (p.Pro403Thr) SNV Uncertain significance 644532 rs1591627924 GRCh37: 12:5021751-5021751
GRCh38: 12:4912585-4912585
32 KCNA1 NM_000217.3(KCNA1):c.1449A>T (p.Gln483His) SNV Uncertain significance 586090 rs372539672 GRCh37: 12:5021993-5021993
GRCh38: 12:4912827-4912827
33 KCNA1 NM_000217.3(KCNA1):c.341C>T (p.Ser114Phe) SNV Uncertain significance 661566 rs1591627522 GRCh37: 12:5020885-5020885
GRCh38: 12:4911719-4911719
34 KCNA1 NC_000012.12:g.(?_4911359)_(4912886_?)dup Duplication Uncertain significance 831572 GRCh37: 12:5020525-5022052
GRCh38:
35 KCNA1 NM_000217.3(KCNA1):c.934C>A (p.Leu312Ile) SNV Uncertain significance 834847 GRCh37: 12:5021478-5021478
GRCh38: 12:4912312-4912312
36 KCNA1 NM_000217.3(KCNA1):c.596C>T (p.Thr199Met) SNV Uncertain significance 835844 GRCh37: 12:5021140-5021140
GRCh38: 12:4911974-4911974
37 KCNA1 NM_000217.3(KCNA1):c.794A>G (p.Tyr265Cys) SNV Uncertain significance 846128 GRCh37: 12:5021338-5021338
GRCh38: 12:4912172-4912172
38 KCNA1 NM_000217.3(KCNA1):c.1415A>G (p.Asn472Ser) SNV Uncertain significance 849888 GRCh37: 12:5021959-5021959
GRCh38: 12:4912793-4912793
39 KCNA1 NM_000217.3(KCNA1):c.585C>G (p.Asp195Glu) SNV Uncertain significance 855826 GRCh37: 12:5021129-5021129
GRCh38: 12:4911963-4911963
40 KCNA1 NM_000217.3(KCNA1):c.1150G>A (p.Gly384Arg) SNV Uncertain significance 863534 GRCh37: 12:5021694-5021694
GRCh38: 12:4912528-4912528
41 KCNA1 NM_000217.3(KCNA1):c.312G>T (p.Arg104Ser) SNV Uncertain significance 863541 GRCh37: 12:5020856-5020856
GRCh38: 12:4911690-4911690
42 KCNA1 NM_000217.3(KCNA1):c.*4177C>T SNV Uncertain significance 309208 rs886049532 GRCh37: 12:5026209-5026209
GRCh38: 12:4917043-4917043
43 KCNA1 NM_000217.3(KCNA1):c.*2286A>C SNV Uncertain significance 309186 rs759796830 GRCh37: 12:5024318-5024318
GRCh38: 12:4915152-4915152
44 KCNA1 NM_000217.3(KCNA1):c.*4926G>A SNV Uncertain significance 309218 rs886049537 GRCh37: 12:5026958-5026958
GRCh38: 12:4917792-4917792
45 KCNA1 NM_000217.3(KCNA1):c.*2000C>T SNV Uncertain significance 309178 rs886049522 GRCh37: 12:5024032-5024032
GRCh38: 12:4914866-4914866
46 KCNA1 NM_000217.3(KCNA1):c.*829A>G SNV Uncertain significance 309162 rs777685914 GRCh37: 12:5022861-5022861
GRCh38: 12:4913695-4913695
47 KCNA1 NM_000217.3(KCNA1):c.*965A>T SNV Uncertain significance 309165 rs886049518 GRCh37: 12:5022997-5022997
GRCh38: 12:4913831-4913831
48 KCNA1 NM_000217.3(KCNA1):c.*1012A>T SNV Uncertain significance 309166 rs886049519 GRCh37: 12:5023044-5023044
GRCh38: 12:4913878-4913878
49 KCNA1 NM_000217.3(KCNA1):c.*2651C>T SNV Uncertain significance 309192 rs886049524 GRCh37: 12:5024683-5024683
GRCh38: 12:4915517-4915517
50 KCNA1 NM_000217.3(KCNA1):c.303C>T (p.Arg101=) SNV Uncertain significance 309143 rs886049509 GRCh37: 12:5020847-5020847
GRCh38: 12:4911681-4911681

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

72 (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

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 20)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.43 PNKD KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4
2 integral component of membrane GO:0016021 10.33 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
3 plasma membrane GO:0005886 10.27 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
4 cell projection GO:0042995 10.09 KCND3 KCNC3 KCNC1 KCNB1 KCNAB2 KCNA4
5 cell junction GO:0030054 10.02 KCNC3 KCNC1 KCNB1 KCNAB2 KCNA2 KCNA1
6 dendrite GO:0030425 9.93 KCND3 KCNC3 KCNB1 KCNA2 KCNA1
7 perikaryon GO:0043204 9.89 KCNC3 KCNB1 KCNAB1 KCNA2 KCNA1
8 neuronal cell body GO:0043025 9.88 KCND3 KCNAB1 KCNA1 CACNA1A
9 presynaptic membrane GO:0042734 9.81 KCNC3 KCNC1 KCNA2 KCNA1
10 axon GO:0030424 9.81 KCNC4 KCNC3 KCNC1 KCNB1 KCNAB2 KCNAB1
11 dendrite membrane GO:0032590 9.71 KCNC4 KCNC3 KCNC1 KCNB1
12 synapse GO:0045202 9.7 KCNQ3 KCNQ2 KCNC4 KCNC3 KCNC1 KCNB1
13 potassium channel complex GO:0034705 9.65 KCNAB1 KCNA2 KCNA1
14 neuronal cell body membrane GO:0032809 9.65 KCNC4 KCNC3 KCNC1 KCNB1 KCNA2
15 juxtaparanode region of axon GO:0044224 9.62 KCNAB2 KCNAB1 KCNA2 KCNA1
16 voltage-gated calcium channel complex GO:0005891 9.59 CACNB4 CACNA1A
17 calyx of Held GO:0044305 9.58 KCNA2 KCNA1
18 axon initial segment GO:0043194 9.57 KCNQ3 KCNQ2
19 node of Ranvier GO:0033268 9.56 KCNQ3 KCNQ2
20 voltage-gated potassium channel complex GO:0008076 9.47 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 10.17 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
2 ion transmembrane transport GO:0034220 10.1 KCNQ3 KCNQ2 KCNC4 KCNC3 KCNC1 KCNB1
3 potassium ion transport GO:0006813 10.1 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
4 protein homooligomerization GO:0051260 10.07 KCNV2 KCND3 KCNC4 KCNC3 KCNC1 KCNB1
5 transmembrane transport GO:0055085 10.03 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
6 chemical synaptic transmission GO:0007268 9.91 KCNQ3 KCNQ2 KCNC4 KCNA1 CACNB4 CACNA1A
7 regulation of ion transmembrane transport GO:0034765 9.86 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
8 neuronal action potential GO:0019228 9.54 KCNA2 KCNA1
9 ion transport GO:0006811 9.53 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
10 protein tetramerization GO:0051262 9.52 KCNC3 KCNC1
11 membrane depolarization GO:0051899 9.51 CACNB4 CACNA1A
12 regulation of potassium ion transmembrane transport GO:1901379 9.49 KCNAB2 KCNAB1
13 potassium ion export across plasma membrane GO:0097623 9.48 KCND3 KCNA2
14 regulation of action potential GO:0098900 9.46 KCNB1 KCNAB2

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 10.03 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
2 delayed rectifier potassium channel activity GO:0005251 10.02 KCNQ3 KCNQ2 KCNC4 KCNC3 KCNC1 KCNB1
3 ion channel activity GO:0005216 9.97 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
4 voltage-gated potassium channel activity GO:0005249 9.8 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
5 ion channel binding GO:0044325 9.67 KCND3 KCNB1 KCNAB2 KCNAB1
6 voltage-gated ion channel activity GO:0005244 9.53 KCNV2 KCNQ3 KCNQ2 KCND3 KCNC4 KCNC3
7 aldo-keto reductase (NADP) activity GO:0004033 9.43 KCNAB2 KCNAB1
8 high voltage-gated calcium channel activity GO:0008331 9.4 CACNB4 CACNA1A

Sources for Episodic Ataxia, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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