MCID: VSL002
MIFTS: 27

Visual Epilepsy

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Visual Epilepsy

MalaCards integrated aliases for Visual Epilepsy:

Name: Visual Epilepsy 12 14
Epilepsy, Visual 12
Visual Seizure 69
Seizures 41

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 41 D012640
NCIt 46 C3980
SNOMED-CT 64 39194005
UMLS 69 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as epilepsy, visual, is related to seizures, benign familial infantile, 3 and epileptic encephalopathy, early infantile, 6, and has symptoms including seizures An important gene associated with Visual Epilepsy is MPP4 (Membrane Palmitoylated Protein 4). Affiliated tissues include eye, and related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Visual Epilepsy

Diseases related to Visual Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 seizures, benign familial infantile, 3 33.7 KCNQ2 SCN1A
2 epileptic encephalopathy, early infantile, 6 33.1 KCNQ2 PNPO SCN1A
3 benign familial neonatal epilepsy 33.1 KCNQ2 PRRT2
4 seizure disorder 31.0 DYRK1A FRRS1L GNB1 GSPT2 HIVEP1 KCNQ2
5 generalized epilepsy with febrile seizures plus, type 2 12.2
6 febrile seizures 12.2
7 malignant migrating partial seizures of infancy 12.2
8 generalized epilepsy with febrile seizures plus, type 1 12.2
9 benign neonatal seizures 12.1
10 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.1
11 febrile seizures, familial, 11 12.1
12 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.1
13 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.1
14 generalized epilepsy with febrile seizures plus, type 7 12.1
15 genetic epilepsy with febrile seizures plus 12.1
16 generalized epilepsy with febrile seizures plus, type 3 12.1
17 dissociative seizures 12.1
18 seizures, benign familial neonatal, 1 12.1
19 febrile seizures, familial, 4 12.1
20 generalized epilepsy with febrile seizures plus 12.1
21 microcephaly, seizures, and developmental delay 12.1
22 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.0
23 febrile seizures, familial, 1 12.0
24 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.0
25 scn1a-related seizure disorders 12.0
26 epilepsy with generalized tonic-clonic seizures 12.0
27 microcephaly, short stature, and polymicrogyria with or without seizures 12.0
28 generalized epilepsy with febrile seizures plus, type 9 12.0
29 primary aldosteronism, seizures, and neurologic abnormalities 12.0
30 seizures, benign familial neonatal, 2 12.0
31 seizures, benign familial infantile, 2 12.0
32 seizures, benign familial infantile, 1 12.0
33 rigidity and multifocal seizure syndrome, lethal neonatal 12.0
34 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.0
35 seizures, cortical blindness, and microcephaly syndrome 12.0
36 generalized epilepsy with febrile seizures plus, type 8 12.0
37 cerebellar atrophy, developmental delay, and seizures 12.0
38 seizures, benign familial infantile, 5 12.0
39 spastic paraplegia and psychomotor retardation with or without seizures 11.9
40 microcephaly, postnatal progressive, with seizures and brain atrophy 11.9
41 seizures, scoliosis, and macrocephaly syndrome 11.9
42 audiogenic seizures 11.9
43 arthrogryposis, mental retardation, and seizures 11.9
44 hypomagnesemia, seizures, and mental retardation 11.9
45 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.9
46 multiple congenital anomalies-hypotonia-seizures syndrome 11.9
47 optic atrophy 10 with or without ataxia, mental retardation, and seizures 11.9
48 mental retardation, autosomal dominant 6, with or without seizures 11.9
49 hyperglycinemia, lactic acidosis, and seizures 11.9
50 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 11.9

Graphical network of the top 20 diseases related to Visual Epilepsy:



Diseases related to Visual Epilepsy

Symptoms & Phenotypes for Visual Epilepsy

UMLS symptoms related to Visual Epilepsy:


seizures

MGI Mouse Phenotypes related to Visual Epilepsy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 DYRK1A FRRS1L GNB1 KCNQ2 MYO5A NALCN
2 mortality/aging MP:0010768 9.73 DYRK1A FRRS1L GNB1 KCNQ2 MYO5A NALCN
3 nervous system MP:0003631 9.44 TSHR UBE3A DYRK1A GNB1 KCNQ2 MPP4

Drugs & Therapeutics for Visual Epilepsy

Search Clinical Trials , NIH Clinical Center for Visual Epilepsy

Cochrane evidence based reviews: seizures

Genetic Tests for Visual Epilepsy

Anatomical Context for Visual Epilepsy

MalaCards organs/tissues related to Visual Epilepsy:

38
Eye

Publications for Visual Epilepsy

Articles related to Visual Epilepsy:

# Title Authors Year
1
Visual epilepsy in glioblastoma multiforme. ( 19803301 )
2008

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
2 MTR NM_000254.2(MTR): c.3518C> T (p.Pro1173Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913578 GRCh37 Chromosome 1, 237058770: 237058770
3 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
4 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
5 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
6 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
7 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
8 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
9 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
10 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
11 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
12 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
13 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
14 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
15 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
16 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
17 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
18 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
19 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
20 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
21 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
22 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
23 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
24 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
25 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
26 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
27 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh38 Chromosome 4, 106194717: 106194717
28 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
29 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
30 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
31 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh37 Chromosome 14, 81422146: 81422146
32 SLC2A1 NM_006516.2(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80359826 GRCh37 Chromosome 1, 43394689: 43394689
33 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742
34 SCN1A NM_001165963.2(SCN1A): c.4554dup (p.Pro1519Thrfs) duplication Pathogenic rs796053082 GRCh38 Chromosome 2, 165996040: 165996040
35 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
36 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
37 SCN2A NM_021007.2(SCN2A): c.2567G> A (p.Arg856Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045942 GRCh38 Chromosome 2, 165344559: 165344559
38 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh37 Chromosome 20, 62070963: 62070965
39 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
40 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
41 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
42 NALCN NM_052867.3(NALCN): c.3390G> A (p.Pro1130=) single nucleotide variant Pathogenic rs869312873 GRCh37 Chromosome 13, 101742197: 101742197
43 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443
44 subset of 36 genes:SHANK3 NC_000022.10: g.(?_49033233)_(51193680_?)del deletion Pathogenic GRCh37 Chromosome 22, 49033233: 51193680
45 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670
46 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
47 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
48 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
49 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
50 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509

Expression for Visual Epilepsy

Search GEO for disease gene expression data for Visual Epilepsy.

Pathways for Visual Epilepsy

GO Terms for Visual Epilepsy

Cellular components related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 node of Ranvier GO:0033268 8.96 KCNQ2 SCN1A
2 axon initial segment GO:0043194 8.62 KCNQ2 SCN1A

Biological processes related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.35 DYRK1A KCNQ2 PURA TSC1 TSHR
2 membrane depolarization during action potential GO:0086010 9.16 NALCN SCN1A
3 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 SCN1A

Molecular functions related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.8 KCNQ2 NALCN SCN1A

Sources for Visual Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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