MCID: VSL002
MIFTS: 37

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 74
Seizures 45

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 45 D012640
NCIt 51 C3980
SNOMED-CT 69 39194005
UMLS 74 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as epilepsy, visual, is related to early infantile epileptic encephalopathy and ceroid lipofuscinosis, neuronal, 3, and has symptoms including seizures An important gene associated with Visual Epilepsy is CLN6 (CLN6 Transmembrane ER Protein), and among its related pathways/superpathways are Lysosome and Central carbon metabolism in cancer. Affiliated tissues include brain, temporal lobe and 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 2030)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 32.7 FRRS1L SCN2A SLC13A5
2 ceroid lipofuscinosis, neuronal, 3 32.6 CLN5 CLN6 TPP1
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.5 CLN5 CLN6
4 encephalopathy 32.4 FRRS1L PNPO SLC13A5
5 ceroid lipofuscinosis, neuronal, 2 32.1 CLN5 CLN6 TPP1
6 adult neuronal ceroid lipofuscinosis 32.1 CLN6 TPP1
7 neuronal ceroid lipofuscinosis 32.0 CLN5 CLN6 TPP1
8 ceroid lipofuscinosis, neuronal, 1 32.0 CLN5 CLN6 TPP1
9 ceroid lipofuscinosis, neuronal, 10 31.9 CLN5 CLN6
10 ceroid lipofuscinosis, neuronal, 9 31.8 CLN5 CLN6
11 ceroid lipofuscinosis, neuronal, 7 31.7 CLN5 CLN6
12 lipid storage disease 31.5 CLN5 CLN6 GALC TPP1
13 alacrima, achalasia, and mental retardation syndrome 31.3 GNB1 HNRNPU SLC2A1
14 pathologic nystagmus 30.3 GALC GNB1 MYO5A
15 neuronal ceroid-lipofuscinoses 30.0 CLN5 CLN6 TPP1
16 seizure disorder 12.6
17 generalized epilepsy with febrile seizures plus, type 2 12.4
18 generalized epilepsy with febrile seizures plus, type 3 12.4
19 generalized epilepsy with febrile seizures plus, type 7 12.4
20 febrile seizures 12.4
21 seizures, benign familial infantile, 3 12.4
22 generalized epilepsy with febrile seizures plus, type 1 12.4
23 malignant migrating partial seizures of infancy 12.4
24 febrile seizures, familial, 11 12.3
25 benign neonatal seizures 12.3
26 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.3
27 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.3
28 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.3
29 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.3
30 dissociative seizures 12.3
31 microcephaly, seizures, and developmental delay 12.3
32 seizures, benign familial infantile, 2 12.3
33 generalized epilepsy with febrile seizures plus, type 9 12.3
34 seizures, benign familial neonatal, 1 12.3
35 genetic epilepsy with febrile seizures plus 12.3
36 generalized epilepsy with febrile seizures plus 12.3
37 febrile seizures, familial, 4 12.3
38 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.3
39 rigidity and multifocal seizure syndrome, lethal neonatal 12.3
40 seizures, cortical blindness, and microcephaly syndrome 12.3
41 seizures, scoliosis, and macrocephaly syndrome 12.3
42 hypomagnesemia, seizures, and mental retardation 1 12.3
43 seizures, benign familial infantile, 5 12.3
44 epilepsy with myoclonic-atonic seizures 12.3
45 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 12.2
46 febrile seizures, familial, 1 12.2
47 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.2
48 microcephaly, short stature, and polymicrogyria with or without seizures 12.2
49 hypomagnesemia, seizures, and mental retardation 2 12.2
50 epilepsy with generalized tonic-clonic seizures 12.2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CLN6 DNM1 FRRS1L GALC GNB1 GOSR2
2 mortality/aging MP:0010768 10.06 ADNP CLN6 DNM1 FRRS1L GALC GNB1
3 cellular MP:0005384 10.02 DNM1 GALC GNB1 HNRNPU PHGDH PTEN
4 embryo MP:0005380 9.86 ADNP GNB1 HNRNPU NALCN PHGDH PTEN
5 muscle MP:0005369 9.5 GALC HNRNPU MYO5A PTEN SCO2 SLC13A5
6 nervous system MP:0003631 9.44 ADNP CLN5 CLN6 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:

42
Brain, Temporal Lobe, Eye, Skin, Pituitary, T Cells, Bone Marrow

Publications for Visual Epilepsy

Articles related to Visual Epilepsy:

# Title Authors Year
1
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602 )
2014
2
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
3
Visual epilepsy in glioblastoma multiforme. ( 19803301 )
2008

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 3147)
# Gene Variation Type Significance SNP ID Assembly Location
1 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
2 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
3 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
4 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Likely pathogenic rs267607235 GRCh37 Chromosome 4, 128842794: 128842794
5 MFSD8 NM_152778.2(MFSD8): c.1235C> T (p.Pro412Leu) single nucleotide variant Likely pathogenic rs267607235 GRCh38 Chromosome 4, 127921639: 127921639
6 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh37 Chromosome 16, 3293407: 3293407
7 MEFV NM_000243.2(MEFV): c.2080A> G (p.Met694Val) single nucleotide variant Pathogenic/Likely pathogenic rs61752717 GRCh38 Chromosome 16, 3243407: 3243407
8 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh37 Chromosome 15, 68506711: 68506711
9 CLN6 NM_017882.2(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 GRCh38 Chromosome 15, 68214373: 68214373
10 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh37 Chromosome 22, 50962423: 50962423
11 SCO2 NM_005138.2(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 GRCh38 Chromosome 22, 50523994: 50523994
12 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh37 Chromosome 2, 167138296: 167138296
13 SCN9A NM_002977.3(SCN9A): c.1964A> G (p.Lys655Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121908919 GRCh38 Chromosome 2, 166281786: 166281786
14 KCNQ2 NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 GRCh37 Chromosome 20, 62070962: 62070962
15 KCNQ2 NM_172107.3(KCNQ2): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 GRCh38 Chromosome 20, 63439609: 63439609
16 BMPR2 NM_001204.6(BMPR2): c.545G> A (p.Gly182Asp) single nucleotide variant Uncertain significance rs137852754 GRCh37 Chromosome 2, 203379626: 203379626
17 BMPR2 NM_001204.6(BMPR2): c.545G> A (p.Gly182Asp) single nucleotide variant Uncertain significance rs137852754 GRCh38 Chromosome 2, 202514903: 202514903
18 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh37 Chromosome 19, 35524558: 35524558
19 SCN1B NM_001037.4(SCN1B): c.363C> G (p.Cys121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894718 GRCh38 Chromosome 19, 35033654: 35033654
20 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
21 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh38 Chromosome X, 120544179: 120544179
22 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
23 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
24 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
25 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
26 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh37 Chromosome 15, 89873415: 89873415
27 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh38 Chromosome 15, 89330184: 89330184
28 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh37 Chromosome 15, 89868870: 89868870
29 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh38 Chromosome 15, 89325639: 89325639
30 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
31 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh38 Chromosome 15, 89323426: 89323426
32 POLG NM_002693.2(POLG): c.2492A> G (p.Tyr831Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41549716 GRCh37 Chromosome 15, 89865073: 89865073
33 POLG NM_002693.2(POLG): c.2492A> G (p.Tyr831Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41549716 GRCh38 Chromosome 15, 89321842: 89321842
34 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
35 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
36 GABRB3 NM_021912.4(GABRB3): c.31C> T (p.Pro11Ser) single nucleotide variant risk factor rs25409 GRCh37 Chromosome 15, 27018841: 27018841
37 GABRB3 NM_021912.4(GABRB3): c.31C> T (p.Pro11Ser) single nucleotide variant risk factor rs25409 GRCh38 Chromosome 15, 26773694: 26773694
38 GABRB3 NM_000814.6(GABRB3): c.94G> A (p.Gly32Arg) single nucleotide variant Uncertain significance rs71651682 GRCh37 Chromosome 15, 27017906: 27017906
39 GABRB3 NM_000814.6(GABRB3): c.94G> A (p.Gly32Arg) single nucleotide variant Uncertain significance rs71651682 GRCh38 Chromosome 15, 26772759: 26772759
40 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571
41 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844
42 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 GRCh37 Chromosome 20, 61981912: 61981912
43 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 GRCh38 Chromosome 20, 63350560: 63350560
44 POLG NM_002693.2(POLG): c.578G> A (p.Arg193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs3176162 GRCh38 Chromosome 15, 89333177: 89333177
45 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh37 Chromosome 8, 133175736: 133175736
46 KCNQ3 NM_004519.3(KCNQ3): c.1241A> G (p.Glu414Gly) single nucleotide variant Benign rs2303995 GRCh38 Chromosome 8, 132163489: 132163489
47 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh37 Chromosome 8, 133146616: 133146616
48 KCNQ3 NM_004519.3(KCNQ3): c.1720C> T (p.Pro574Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs74582884 GRCh38 Chromosome 8, 132134369: 132134369
49 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh37 Chromosome 8, 133141666: 133141666
50 KCNQ3 NM_004519.3(KCNQ3): c.2462A> G (p.Asn821Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs118192254 GRCh38 Chromosome 8, 132129419: 132129419

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

Pathways related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.22 CLN5 GALC TPP1
2 10.61 PTEN SCO2 SLC2A1

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 lysosome GO:0005764 9.26 CLN5 GALC MYO5A TPP1
2 melanosome GO:0042470 8.8 MYO5A SLC2A1 TPP1

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

# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.5 NALCN SCN2A SLC13A5
2 response to inorganic substance GO:0010035 9.26 ADNP PTEN
3 locomotion involved in locomotory behavior GO:0031987 9.16 CLN6 MYO5A
4 lysosomal lumen acidification GO:0007042 8.96 CLN5 CLN6
5 protein catabolic process GO:0030163 8.8 CLN5 CLN6 TPP1

Sources for Visual Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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