MCID: VSL002
MIFTS: 35

Visual Epilepsy

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Visual Epilepsy

MalaCards integrated aliases for Visual Epilepsy:

Name: Visual Epilepsy 12 15
Epilepsy, Visual 12
Visual Seizure 73
Seizures 44

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 44 D012640
NCIt 50 C3980
SNOMED-CT 68 39194005
UMLS 73 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as epilepsy, visual, is related to west syndrome and microcephaly, and has symptoms including seizures An important gene associated with Visual Epilepsy is ADNP (Activity Dependent Neuroprotector Homeobox). Affiliated tissues include eye, brain and liver, 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 1850)
# Related Disease Score Top Affiliating Genes
1 west syndrome 32.3 ARFGEF2 PHGDH SCN2A TSC1
2 microcephaly 31.9 ARFGEF2 DHX30 PHGDH SLC2A1 UBE3A
3 focal epilepsy 31.6 SCN2A SLC2A1 TSC1
4 alacrima, achalasia, and mental retardation syndrome 30.8 DHX30 GNB1 HNRNPU SLC2A1
5 hypotonia 30.7 GNB1 NALCN TBCK UBE3A
6 autism spectrum disorder 30.2 ADNP SCN2A TSC1 UBE3A
7 epilepsy 29.9 ALDH7A1 PNPO SCN2A SLC2A1 TSC1 UBE3A
8 pathologic nystagmus 29.5 GALC GNB1 MYO5A
9 seizure disorder 12.4
10 generalized epilepsy with febrile seizures plus, type 2 12.4
11 febrile seizures 12.4
12 seizures, benign familial infantile, 3 12.3
13 generalized epilepsy with febrile seizures plus, type 1 12.3
14 malignant migrating partial seizures of infancy 12.3
15 febrile seizures, familial, 11 12.3
16 benign neonatal seizures 12.3
17 dissociative seizures 12.3
18 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.3
19 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.3
20 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.3
21 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.3
22 generalized epilepsy with febrile seizures plus, type 3 12.3
23 generalized epilepsy with febrile seizures plus, type 7 12.3
24 genetic epilepsy with febrile seizures plus 12.3
25 generalized epilepsy with febrile seizures plus 12.3
26 febrile seizures, familial, 4 12.3
27 microcephaly, seizures, and developmental delay 12.2
28 epilepsy with myoclonic-atonic seizures 12.2
29 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.2
30 microcephaly, short stature, and polymicrogyria with or without seizures 12.2
31 seizures, benign familial infantile, 2 12.2
32 generalized epilepsy with febrile seizures plus, type 9 12.2
33 scn1a-related seizure disorders 12.2
34 seizures, benign familial neonatal, 2 12.2
35 seizures, benign familial neonatal, 1 12.2
36 rigidity and multifocal seizure syndrome, lethal neonatal 12.2
37 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.2
38 epilepsy with generalized tonic-clonic seizures 12.2
39 cerebellar atrophy, developmental delay, and seizures 12.1
40 microcephaly, postnatal progressive, with seizures and brain atrophy 12.1
41 seizures, benign familial infantile, 1 12.1
42 seizures, cortical blindness, and microcephaly syndrome 12.1
43 primary aldosteronism, seizures, and neurologic abnormalities 12.1
44 seizures, scoliosis, and macrocephaly syndrome 12.1
45 seizures, benign familial infantile, 5 12.1
46 hypomagnesemia, seizures, and mental retardation 12.1
47 spastic paraplegia and psychomotor retardation with or without seizures 12.1
48 generalized epilepsy with febrile seizures plus, type 8 12.1
49 arthrogryposis, mental retardation, and seizures 12.1
50 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 DNM1 FRRS1L GALC GNB1 MYO5A NALCN
2 mortality/aging MP:0010768 9.83 ADNP ARFGEF2 DHX30 DNM1 FRRS1L GALC
3 embryo MP:0005380 9.76 ADNP DHX30 GNB1 HNRNPU NALCN PHGDH
4 nervous system MP:0003631 9.44 ADNP ARFGEF2 DHX30 DNM1 GALC GNB1

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:

41
Eye, Brain, Liver, Bone, Heart, Testes, T Cells

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 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
2 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh38 Chromosome 22, 50523994: 50523994
3 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh37 Chromosome 2, 167138296: 167138296
4 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh38 Chromosome 2, 166281786: 166281786
5 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
6 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
7 EARS2 NM_001083614.1(EARS2): c.322C> T (p.Arg108Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376103091 GRCh37 Chromosome 16, 23555998: 23555998
8 EARS2 NM_001083614.1(EARS2): c.322C> T (p.Arg108Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376103091 GRCh38 Chromosome 16, 23544677: 23544677
9 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
10 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh38 Chromosome X, 49075573: 49075573
11 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh38 Chromosome 9, 132902640: 132902640
12 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
13 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh38 Chromosome 9, 132900828: 132900831
14 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
15 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
16 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh37 Chromosome X, 153296605: 153296605
17 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 GRCh38 Chromosome X, 154031154: 154031154
18 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh37 Chromosome 5, 139494029: 139494031
19 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Likely pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
20 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Likely pathogenic rs587783001 GRCh37 Chromosome 5, 139494362: 139494362
21 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh37 Chromosome X, 18606141: 18606141
22 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh38 Chromosome X, 18588021: 18588021
23 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
24 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
25 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
26 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
27 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh37 Chromosome 21, 38862575: 38862575
28 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
29 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh37 Chromosome 21, 38862656: 38862656
30 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
31 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh37 Chromosome 21, 38862757: 38862757
32 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh38 Chromosome 21, 37493101: 37493101
33 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh37 Chromosome 21, 38865403: 38865403
34 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
35 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh37 Chromosome 21, 38868553: 38868553
36 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
37 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh37 Chromosome 21, 38877655: 38877655
38 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh38 Chromosome 21, 37512002: 37512002
39 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh37 Chromosome 21, 38884305: 38884305
40 AMPD2 NM_004037.7(AMPD2): c.1619G> A (p.Arg540Gln) single nucleotide variant Likely pathogenic rs192669225 GRCh38 Chromosome 1, 109628692: 109628692
41 AMPD2 NM_004037.7(AMPD2): c.1619G> A (p.Arg540Gln) single nucleotide variant Likely pathogenic rs192669225 GRCh37 Chromosome 1, 110171314: 110171314
42 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
43 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh37 Chromosome 1, 184023870: 184023870
44 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh38 Chromosome 1, 215602099: 215602136
45 KCTD3 NM_016121.4(KCTD3): c.1036_1073del38 (p.Pro346Thrfs) deletion Likely pathogenic rs730882243 GRCh37 Chromosome 1, 215775441: 215775478
46 DMBX1 NM_147192.2(DMBX1): c.367C> T (p.Arg123Trp) single nucleotide variant Likely pathogenic rs730882203 GRCh38 Chromosome 1, 46510953: 46510953
47 DMBX1 NM_147192.2(DMBX1): c.367C> T (p.Arg123Trp) single nucleotide variant Likely pathogenic rs730882203 GRCh37 Chromosome 1, 46976625: 46976625
48 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh38 Chromosome 2, 130194199: 130194199
49 TUBA3E NM_207312.2(TUBA3E): c.643C> T (p.Arg215Cys) single nucleotide variant Likely pathogenic rs730882212 GRCh37 Chromosome 2, 130951772: 130951772
50 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446

Copy number variations for Visual Epilepsy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 300885 14 66102556 66605185 Microdeletions GPHN Seizures

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 midbody GO:0030496 9.13 HNRNPU SLC2A1 TBCK
2 myelin sheath GO:0043209 8.8 DNM1 GNB1 PHGDH

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

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.8 MYO5A SCN2A TSC1

Sources for Visual Epilepsy

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
45 MESH via Orphanet
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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