EA6
MCID: EPS017
MIFTS: 44

Episodic Ataxia, Type 6 (EA6)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 6

MalaCards integrated aliases for Episodic Ataxia, Type 6:

Name: Episodic Ataxia, Type 6 57 29 13 6
Episodic Ataxia Type 6 12 58 15
Ea6 57 72
Ataxia, Episodic, Type 6 39
Episodic Ataxia 6 72
Ea-6 72

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia type 6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood
later onset has been reported
variable phenotype and severity
three unrelated families have been reported (last curated november 2016)
episodes may last several hours
episodes triggered by fever, illness, feeding, stress, exercise
favorable response to treatment with acetazolamide


HPO:

31
episodic ataxia, type 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 6

Disease Ontology : 12 An episodic ataxia that is characterized by nystagmus and dysarthria, and has material basis in autosomal dominant inheritance of mutation in the SLC1A3 gene.

MalaCards based summary : Episodic Ataxia, Type 6, also known as episodic ataxia type 6, is related to hemiplegia and spinocerebellar ataxia 6. An important gene associated with Episodic Ataxia, Type 6 is SLC1A3 (Solute Carrier Family 1 Member 3), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. Related phenotypes are nausea and vomiting and ataxia

UniProtKB/Swiss-Prot : 72 Episodic ataxia 6: A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.

More information from OMIM: 612656 PS160120

Related Diseases for Episodic Ataxia, Type 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 hemiplegia 30.0 SLC1A3 SLC1A1 CACNA1A
2 spinocerebellar ataxia 6 29.8 CACNB4 CACNA1A ATXN7
3 autosomal dominant cerebellar ataxia 28.6 SPTBN2 SLC1A6 KCNC3 GRID2 CACNA1A ATXN7
4 episodic ataxia 28.3 SPTBN2 SLC1A6 SLC1A3 SLC1A1 KCNC3 CACNB4
5 hereditary ataxia 28.2 SPTBN2 SLC1A3 KCNC3 GRID2 CACNB4 CACNA1A
6 hereditary episodic ataxia 10.2 SLC1A3 CACNA1A
7 developmental and epileptic encephalopathy 5 10.2 SPTBN2 SLC1A6
8 migraine, familial hemiplegic, 2 10.2 SLC1A3 CACNA1A
9 spinocerebellar ataxia, autosomal recessive 14 10.2 SPTBN2 CACNA1A
10 episodic ataxia, type 5 10.2 CACNB4 CACNA1A
11 hyperoxaluria, primary, type ii 10.2 SLC1A3 SLC1A1
12 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.1 SPTBN2 CACNA1A
13 adolescence-adult electroclinical syndrome 10.1 CACNB4 CACNA1A
14 spinocerebellar ataxia 18 10.1 SPTBN2 GRID2
15 migraine, familial hemiplegic, 3 10.1 SLC1A3 CACNA1A
16 childhood electroclinical syndrome 10.1 CACNB4 CACNA1A
17 dicarboxylic aminoaciduria 10.0 SLC1A7 SLC1A6 SLC1A1
18 ataxia and polyneuropathy, adult-onset 10.0
19 migraine, familial hemiplegic, 1 10.0 SLC1A7 SLC1A3 CACNA1A
20 primary cerebellar degeneration 10.0 RBM12B GRID2
21 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.0 CACNA1A ATXN7
22 spinocerebellar ataxia 5 10.0 SPTBN2 SLC1A6 GRID2
23 spinocerebellar ataxia 12 10.0 CACNA1A ATXN7
24 seizures, benign familial neonatal, 1 10.0
25 developmental and epileptic encephalopathy 41 10.0
26 pathologic nystagmus 10.0
27 cerebral palsy, ataxic, autosomal recessive 10.0 SPTBN2 KCNC3
28 olivopontocerebellar atrophy 10.0 CACNA1A ATXN7
29 far eastern spotted fever 9.9 SPTBN2 KCNC3
30 spinocerebellar ataxia 23 9.9 SPTBN2 KCNC3
31 spinocerebellar ataxia 13 9.9 SPTBN2 KCNC3
32 cerebellar ataxia type 42 9.9 KCNC3 CACNA1A
33 spinocerebellar ataxia 17 9.9 CACNA1A ATXN7
34 late-onset retinal degeneration 9.9 SLC1A7 SLC1A6 SLC1A3 SLC1A1
35 huntington disease-like 2 9.9 CACNA1A ATXN7
36 marinesco-sjogren syndrome 9.9 SPTBN2 KCNC3
37 migraine with or without aura 1 9.9 SLC1A3 CACNB4 CACNA1A
38 cerebellar ataxia type 41 9.8 KCNC3 GRID2
39 ocular motility disease 9.8 CACNA1A ATXN7
40 episodic ataxia, type 1 9.8 KCNC3 CACNB4 CACNA1A
41 spinocerebellar ataxia 30 9.7 SPTBN2 SLC1A6 CACNA1A ATXN7
42 spinocerebellar ataxia, autosomal recessive 8 9.7 SPTBN2 SLC1A6 CACNA1A ATXN7
43 machado-joseph disease 9.7 SPTBN2 SLC1A3 CACNA1A ATXN7
44 early myoclonic encephalopathy 9.7 KCNC3 CACNB4 CACNA1A
45 fragile x-associated tremor/ataxia syndrome 9.7 SLC1A3 ATXN7
46 spinocerebellar ataxia 15 9.7 SPTBN2 KCNC3
47 cerebellar ataxia type 9 9.7 SPTBN2 KCNC3 ATXN7
48 autosomal recessive cerebellar ataxia 9.6 SPTBN2 GRID2 CACNA1A ATXN7
49 spinocerebellar ataxia 10 9.6 KCNC3 CACNA1A ATXN7
50 spinal and bulbar muscular atrophy, x-linked 1 9.6 KCNC3 CACNA1A ATXN7

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 6:



Diseases related to Episodic Ataxia, Type 6

Symptoms & Phenotypes for Episodic Ataxia, Type 6

Human phenotypes related to Episodic Ataxia, Type 6:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
5 phonophobia 58 31 frequent (33%) Frequent (79-30%) HP:0002183
6 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
7 slurred speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001350
8 reduced visual acuity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007663
9 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
10 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
11 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
12 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
13 nystagmus 31 occasional (7.5%) HP:0000639
14 hypometric saccades 31 occasional (7.5%) HP:0000571
15 seizure 31 occasional (7.5%) HP:0001250
16 seizures 58 Occasional (29-5%)
17 dysarthria 31 HP:0001260
18 vomiting 31 HP:0002013
19 motor delay 31 HP:0001270
20 headache 58 Occasional (29-5%)
21 cerebellar hypoplasia 31 HP:0001321
22 hemiparesis 31 HP:0001269
23 generalized hypotonia 31 HP:0001290
24 episodic ataxia 31 HP:0002131
25 truncal ataxia 31 HP:0002078
26 nausea 31 HP:0002018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
migraine
delayed motor development
hemiplegia, episodic
seizures (rare)
more
Head And Neck Eyes:
nystagmus (in some patients)
diplopia, episodic
photophobia, episodic
hypometric saccades (in some patients)
jerky ocular pursuit (in some patients)

Muscle Soft Tissue:
hypotonia, episodic

Abdomen Gastrointestinal:
vomiting
nausea

Head And Neck Ears:
vertigo, episodic
phonophobia, episodic

Clinical features from OMIM®:

612656 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Episodic Ataxia, Type 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 ATXN7 CACNA1A CACNB4 GRID2 KCNC3 RBM4B
2 nervous system MP:0003631 9.28 ATXN7 CACNA1A CACNB4 GRID2 KCNC3 SLC1A1

Drugs & Therapeutics for Episodic Ataxia, Type 6

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 6

Genetic Tests for Episodic Ataxia, Type 6

Genetic tests related to Episodic Ataxia, Type 6:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 6 29 SLC1A3

Anatomical Context for Episodic Ataxia, Type 6

Publications for Episodic Ataxia, Type 6

Articles related to Episodic Ataxia, Type 6:

# Title Authors PMID Year
1
Exome sequencing in undiagnosed inherited and sporadic ataxias. 57 6
25497598 2015
2
Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. 57 6
19139306 2009
3
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. 6 57
16116111 2005
4
Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes. 61 6
24214974 2013
5
A point mutation associated with episodic ataxia 6 increases glutamate transporter anion currents. 6 61
23107647 2012
6
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6. 61
32741053 2020
7
Increased glutamate transporter-associated anion currents cause glial apoptosis in episodic ataxia 6. 61
32954283 2020
8
Late-onset episodic ataxia associated with SLC1A3 mutation. 61
27829685 2017
9
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. 61
16638506 2006

Variations for Episodic Ataxia, Type 6

ClinVar genetic disease variations for Episodic Ataxia, Type 6:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC1A3 NM_004172.5(SLC1A3):c.869C>G (p.Pro290Arg) SNV Pathogenic 9441 rs137852619 GRCh37: 5:36679737-36679737
GRCh38: 5:36679635-36679635
2 SLC1A3 NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser) SNV Pathogenic 9442 rs137852620 GRCh37: 5:36674182-36674182
GRCh38: 5:36674080-36674080
3 SLC1A3 NM_004172.5(SLC1A3):c.1167C>T (p.Phe389=) SNV Uncertain significance 353322 rs372548093 GRCh37: 5:36680569-36680569
GRCh38: 5:36680467-36680467
4 SLC1A3 NM_004172.5(SLC1A3):c.*1206G>A SNV Uncertain significance 353348 rs530235885 GRCh37: 5:36687577-36687577
GRCh38: 5:36687475-36687475
5 SLC1A3 NM_004172.5(SLC1A3):c.374T>C (p.Val125Ala) SNV Uncertain significance 353312 rs764799721 GRCh37: 5:36671185-36671185
GRCh38: 5:36671083-36671083
6 SLC1A3 NM_004172.5(SLC1A3):c.860+9T>C SNV Uncertain significance 353317 rs886060543 GRCh37: 5:36677295-36677295
GRCh38: 5:36677193-36677193
7 SLC1A3 NM_004172.5(SLC1A3):c.1269C>T (p.Phe423=) SNV Uncertain significance 353323 rs758802146 GRCh37: 5:36680671-36680671
GRCh38: 5:36680569-36680569
8 SLC1A3 NM_004172.5(SLC1A3):c.*1229A>G SNV Uncertain significance 353349 rs886060549 GRCh37: 5:36687600-36687600
GRCh38: 5:36687498-36687498
9 SLC1A3 NM_004172.5(SLC1A3):c.*1605T>A SNV Uncertain significance 353355 rs182194574 GRCh37: 5:36687976-36687976
GRCh38: 5:36687874-36687874
10 SLC1A3 NM_004172.5(SLC1A3):c.601G>A (p.Val201Met) SNV Uncertain significance 353313 rs748235513 GRCh37: 5:36677027-36677027
GRCh38: 5:36676925-36676925
11 SLC1A3 NM_004172.5(SLC1A3):c.*761G>A SNV Uncertain significance 353341 rs182371422 GRCh37: 5:36687132-36687132
GRCh38: 5:36687030-36687030
12 SLC1A3 NM_004172.5(SLC1A3):c.897G>C (p.Gly299=) SNV Uncertain significance 353318 rs768627283 GRCh37: 5:36679765-36679765
GRCh38: 5:36679663-36679663
13 SLC1A3 NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=) SNV Uncertain significance 353324 rs200947079 GRCh37: 5:36680686-36680686
GRCh38: 5:36680584-36680584
14 SLC1A3 NM_004172.5(SLC1A3):c.*1160T>C SNV Uncertain significance 353347 rs886060548 GRCh37: 5:36687531-36687531
GRCh38: 5:36687429-36687429
15 SLC1A3 NM_004172.5(SLC1A3):c.825C>T (p.Asn275=) SNV Uncertain significance 353316 rs201765665 GRCh37: 5:36677251-36677251
GRCh38: 5:36677149-36677149
16 SLC1A3 NM_004172.5(SLC1A3):c.-205G>A SNV Uncertain significance 903994 GRCh37: 5:36606728-36606728
GRCh38: 5:36606626-36606626
17 SLC1A3 NM_004172.5(SLC1A3):c.-20C>A SNV Uncertain significance 903995 GRCh37: 5:36608506-36608506
GRCh38: 5:36608404-36608404
18 SLC1A3 NM_004172.5(SLC1A3):c.1188C>T (p.Thr396=) SNV Uncertain significance 904056 GRCh37: 5:36680590-36680590
GRCh38: 5:36680488-36680488
19 SLC1A3 NM_004172.5(SLC1A3):c.*1445A>T SNV Uncertain significance 904124 GRCh37: 5:36687816-36687816
GRCh38: 5:36687714-36687714
20 SLC1A3 NM_004172.5(SLC1A3):c.*439T>A SNV Uncertain significance 904835 GRCh37: 5:36686810-36686810
GRCh38: 5:36686708-36686708
21 SLC1A3 NM_004172.5(SLC1A3):c.*440A>G SNV Uncertain significance 904836 GRCh37: 5:36686811-36686811
GRCh38: 5:36686709-36686709
22 SLC1A3 NM_004172.5(SLC1A3):c.*1533G>A SNV Uncertain significance 904897 GRCh37: 5:36687904-36687904
GRCh38: 5:36687802-36687802
23 SLC1A3 NM_004172.5(SLC1A3):c.*1554T>G SNV Uncertain significance 904898 GRCh37: 5:36687925-36687925
GRCh38: 5:36687823-36687823
24 SLC1A3 NM_004172.5(SLC1A3):c.297T>G (p.Leu99=) SNV Uncertain significance 905872 GRCh37: 5:36629667-36629667
GRCh38: 5:36629565-36629565
25 SLC1A3 NM_004172.5(SLC1A3):c.641T>C (p.Ile214Thr) SNV Uncertain significance 906384 GRCh37: 5:36677067-36677067
GRCh38: 5:36676965-36676965
26 SLC1A3 NM_004172.5(SLC1A3):c.*516T>C SNV Uncertain significance 906449 GRCh37: 5:36686887-36686887
GRCh38: 5:36686785-36686785
27 SLC1A3 NM_004172.5(SLC1A3):c.*733G>A SNV Uncertain significance 906452 GRCh37: 5:36687104-36687104
GRCh38: 5:36687002-36687002
28 SLC1A3 NM_004172.5(SLC1A3):c.955G>A (p.Val319Met) SNV Uncertain significance 907391 GRCh37: 5:36679823-36679823
GRCh38: 5:36679721-36679721
29 SLC1A3 NM_004172.5(SLC1A3):c.*843C>T SNV Uncertain significance 907443 GRCh37: 5:36687214-36687214
GRCh38: 5:36687112-36687112
30 SLC1A3 NM_004172.5(SLC1A3):c.*955C>A SNV Uncertain significance 907444 GRCh37: 5:36687326-36687326
GRCh38: 5:36687224-36687224
31 SLC1A3 NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) SNV Uncertain significance 242994 rs138085358 GRCh37: 5:36686238-36686238
GRCh38: 5:36686136-36686136
32 SLC1A3 NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu) SNV Uncertain significance 195211 rs754763002 GRCh37: 5:36608553-36608553
GRCh38: 5:36608451-36608451
33 SLC1A3 NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys) SNV Uncertain significance 353309 rs573483474 GRCh37: 5:36629582-36629582
GRCh38: 5:36629480-36629480
34 SLC1A3 NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val) SNV Uncertain significance 809746 rs146815724 GRCh37: 5:36677051-36677051
GRCh38: 5:36676949-36676949
35 SLC1A3 NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu) SNV Uncertain significance 426756 rs774420370 GRCh37: 5:36671321-36671321
GRCh38: 5:36671219-36671219
36 SLC1A3 NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg) SNV Uncertain significance 1028197 GRCh37: 5:36629579-36629579
GRCh38: 5:36629477-36629477
37 SLC1A3 NM_004172.5(SLC1A3):c.279G>A (p.Gln93=) SNV Likely benign 805481 rs375527461 GRCh37: 5:36629649-36629649
GRCh38: 5:36629547-36629547
38 SLC1A3 NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile) SNV Likely benign 907389 GRCh37: 5:36679789-36679789
GRCh38: 5:36679687-36679687
39 SLC1A3 NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln) SNV Likely benign 353310 rs148490778 GRCh37: 5:36629597-36629597
GRCh38: 5:36629495-36629495
40 SLC1A3 NM_004172.5(SLC1A3):c.*1381A>G SNV Benign 353352 rs1803715 GRCh37: 5:36687752-36687752
GRCh38: 5:36687650-36687650
41 SLC1A3 NM_004172.5(SLC1A3):c.*33G>A SNV Benign 353326 rs2229894 GRCh37: 5:36686404-36686404
GRCh38: 5:36686302-36686302
42 SLC1A3 NM_004172.5(SLC1A3):c.*981G>A SNV Benign 353343 rs890922 GRCh37: 5:36687352-36687352
GRCh38: 5:36687250-36687250
43 SLC1A3 NM_004172.5(SLC1A3):c.*1081C>T SNV Benign 353346 rs7724801 GRCh37: 5:36687452-36687452
GRCh38: 5:36687350-36687350
44 SLC1A3 NM_004172.5(SLC1A3):c.*95G>A SNV Benign 353327 rs143096871 GRCh37: 5:36686466-36686466
GRCh38: 5:36686364-36686364
45 SLC1A3 NM_004172.5(SLC1A3):c.320-7C>T SNV Benign 353311 rs200867287 GRCh37: 5:36671124-36671124
GRCh38: 5:36671022-36671022
46 SLC1A3 NM_004172.5(SLC1A3):c.*1022G>A SNV Benign 353344 rs1049524 GRCh37: 5:36687393-36687393
GRCh38: 5:36687291-36687291
47 SLC1A3 NM_004172.5(SLC1A3):c.*230C>T SNV Benign 353330 rs61420944 GRCh37: 5:36686601-36686601
GRCh38: 5:36686499-36686499
48 SLC1A3 NM_004172.5(SLC1A3):c.*1747G>A SNV Benign 353358 rs6886600 GRCh37: 5:36688118-36688118
GRCh38: 5:36688016-36688016
49 SLC1A3 NM_004172.5(SLC1A3):c.*465C>T SNV Benign 353335 rs186288512 GRCh37: 5:36686836-36686836
GRCh38: 5:36686734-36686734
50 SLC1A3 NM_004172.5(SLC1A3):c.*594G>A SNV Benign 353338 rs10428531 GRCh37: 5:36686965-36686965
GRCh38: 5:36686863-36686863

UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 6:

72
# Symbol AA change Variation ID SNP ID
1 SLC1A3 p.Pro290Arg VAR_031733 rs137852619

Expression for Episodic Ataxia, Type 6

Search GEO for disease gene expression data for Episodic Ataxia, Type 6.

Pathways for Episodic Ataxia, Type 6

GO Terms for Episodic Ataxia, Type 6

Cellular components related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.62 SPTBN2 SLC1A3 SLC1A1 CACNA1A
2 presynapse GO:0098793 9.46 SPTBN2 SLC1A7 SLC1A1 CACNA1A
3 voltage-gated calcium channel complex GO:0005891 9.37 CACNB4 CACNA1A
4 parallel fiber to Purkinje cell synapse GO:0098688 9.26 SPTBN2 GRID2
5 synapse GO:0045202 9.1 SLC1A3 SLC1A1 KCNC3 GRID2 CACNB4 CACNA1A
6 membrane protein complex GO:0098796 8.96 SLC1A6 SLC1A3

Biological processes related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.88 SLC1A7 SLC1A6 SLC1A3 SLC1A1 KCNC3 CACNA1A
2 chemical synaptic transmission GO:0007268 9.77 SLC1A6 SLC1A3 SLC1A1 CACNB4 CACNA1A
3 regulation of ion transmembrane transport GO:0034765 9.72 KCNC3 CACNB4 CACNA1A
4 amino acid transport GO:0006865 9.67 SLC1A6 SLC1A3 SLC1A1
5 ion transport GO:0006811 9.56 SLC1A7 SLC1A6 SLC1A3 SLC1A1 KCNC3 GRID2
6 membrane depolarization GO:0051899 9.54 CACNB4 CACNA1A
7 transepithelial transport GO:0070633 9.52 SLC1A3 SLC1A1
8 L-aspartate transmembrane transport GO:0070778 9.51 SLC1A6 SLC1A1
9 neurotransmitter uptake GO:0001504 9.5 SLC1A7 SLC1A6 SLC1A3
10 D-aspartate import across plasma membrane GO:0070779 9.48 SLC1A3 SLC1A1
11 L-aspartate import across plasma membrane GO:0140009 9.46 SLC1A3 SLC1A1
12 glutamate secretion GO:0014047 9.46 SLC1A7 SLC1A6 SLC1A3 SLC1A1
13 L-glutamate import GO:0051938 9.43 SLC1A3 SLC1A1
14 L-glutamate import across plasma membrane GO:0098712 9.43 SLC1A6 SLC1A3 SLC1A1
15 L-glutamate transmembrane transport GO:0015813 8.92 SLC1A7 SLC1A6 SLC1A3 SLC1A1

Molecular functions related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.63 KCNC3 GRID2 CACNA1A
2 voltage-gated ion channel activity GO:0005244 9.61 KCNC3 CACNB4 CACNA1A
3 voltage-gated calcium channel activity GO:0005245 9.48 CACNB4 CACNA1A
4 symporter activity GO:0015293 9.46 SLC1A7 SLC1A6 SLC1A3 SLC1A1
5 glutamate binding GO:0016595 9.4 SLC1A3 SLC1A1
6 high voltage-gated calcium channel activity GO:0008331 9.37 CACNB4 CACNA1A
7 L-aspartate transmembrane transporter activity GO:0015183 9.32 SLC1A6 SLC1A1
8 glutamate:sodium symporter activity GO:0015501 9.26 SLC1A3 SLC1A1
9 high-affinity glutamate transmembrane transporter activity GO:0005314 9.13 SLC1A6 SLC1A3 SLC1A1
10 L-glutamate transmembrane transporter activity GO:0005313 8.92 SLC1A7 SLC1A6 SLC1A3 SLC1A1

Sources for Episodic Ataxia, Type 6

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
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