MCID: VSL002
MIFTS: 33

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 seizure disorder and west syndrome, and has symptoms including seizures An important gene associated with Visual Epilepsy is CLN6 (CLN6 Transmembrane ER Protein). Affiliated tissues include eye, and related phenotypes are behavior/neurological and cellular

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 1968)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 34.6 CDKL5 MECP2 PNPO
2 west syndrome 32.7 CDKL5 MECP2 PHGDH TSC1
3 encephalopathy 32.5 CDKL5 MECP2 PNPO SLC13A5
4 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.4 CLN5 CLN6
5 hemiplegic migraine 32.1 GNB1 PRRT2 SLC2A1
6 early onset absence epilepsy 31.9 PRRT2 SLC2A1
7 ceroid lipofuscinosis, neuronal, 10 31.8 CLN5 CLN6
8 ceroid lipofuscinosis, neuronal, 9 31.7 CLN5 CLN6
9 ceroid lipofuscinosis, neuronal, 7 31.5 CLN5 CLN6
10 glut1 deficiency syndrome 2 31.5 PRRT2 SLC2A1
11 alacrima, achalasia, and mental retardation syndrome 31.3 GNB1 HNRNPU MECP2 PURA SLC2A1
12 hypotonia 31.2 GNB1 MECP2 NALCN PURA
13 autism 31.0 ADNP CDKL5 MECP2 PTEN TSC1
14 autism spectrum disorder 30.7 ADNP MECP2 PTEN TSC1
15 dystonia 30.6 GNB1 MYO5A PRRT2 SLC2A1
16 focal epilepsy 30.4 CDKL5 SLC2A1 TSC1
17 paroxysmal choreoathetosis 30.3 PRRT2 SLC2A1
18 epilepsy 30.3 CDKL5 MECP2 PNPO PRRT2 SLC2A1 TSC1
19 generalized epilepsy with febrile seizures plus, type 2 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 3 12.3
28 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.3
29 dissociative seizures 12.3
30 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.3
31 microcephaly, seizures, and developmental delay 12.3
32 generalized epilepsy with febrile seizures plus, type 3 12.3
33 generalized epilepsy with febrile seizures plus, type 7 12.3
34 genetic epilepsy with febrile seizures plus 12.3
35 generalized epilepsy with febrile seizures plus 12.3
36 epilepsy with myoclonic-atonic seizures 12.2
37 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.2
38 microcephaly, short stature, and polymicrogyria with or without seizures 12.2
39 seizures, benign familial infantile, 2 12.2
40 epilepsy with generalized tonic-clonic seizures 12.2
41 generalized epilepsy with febrile seizures plus, type 9 12.2
42 scn1a-related seizure disorders 12.2
43 seizures, benign familial neonatal, 2 12.2
44 seizures, benign familial neonatal, 1 12.2
45 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.2
46 febrile seizures, familial, 4 12.2
47 cerebellar atrophy, developmental delay, and seizures 12.2
48 microcephaly, postnatal progressive, with seizures and brain atrophy 12.2
49 seizures, benign familial infantile, 1 12.2
50 rigidity and multifocal seizure syndrome, lethal neonatal 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 10.22 CDKL5 CLN6 DNM1 GNB1 MECP2 MYO5A
2 cellular MP:0005384 10.11 COL3A1 DNM1 GNB1 HNRNPU MECP2 PHGDH
3 mortality/aging MP:0010768 10.1 ADNP CLN6 COL3A1 DNM1 GNB1 HNRNPU
4 nervous system MP:0003631 10.03 ADNP CDKL5 CLN5 CLN6 DNM1 GNB1
5 embryo MP:0005380 9.97 ADNP GNB1 HNRNPU MECP2 NALCN PHGDH
6 respiratory system MP:0005388 9.5 COL3A1 GNB1 MECP2 NALCN PTEN PURA
7 vision/eye MP:0005391 9.23 CDKL5 CLN5 CLN6 DNM1 MECP2 MYO5A

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
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 3141)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh37 Chromosome 1, 154544490: 154544490
2 CHRNB2 NM_000748.2(CHRNB2): c.1191G> C (p.Gln397His) single nucleotide variant Conflicting interpretations of pathogenicity rs55685423 GRCh38 Chromosome 1, 154572014: 154572014
3 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh37 Chromosome 1, 154548331: 154548331
4 CHRNB2 NM_000748.2(CHRNB2): c.1432T> C (p.Phe478Leu) single nucleotide variant Benign/Likely benign rs79137415 GRCh38 Chromosome 1, 154575855: 154575855
5 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
6 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
7 SPTAN1 NM_001130438.2(SPTAN1): c.979C> T (p.Leu327=) single nucleotide variant Benign/Likely benign rs587784442 GRCh37 Chromosome 9, 131339679: 131339679
8 SPTAN1 NM_001130438.2(SPTAN1): c.979C> T (p.Leu327=) single nucleotide variant Benign/Likely benign rs587784442 GRCh38 Chromosome 9, 128577400: 128577400
9 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh37 Chromosome 9, 131341997: 131341997
10 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh38 Chromosome 9, 128579718: 128579718
11 SPTAN1 NM_001130438.2(SPTAN1): c.3486C> T (p.Leu1162=) single nucleotide variant Benign rs2227864 GRCh37 Chromosome 9, 131360750: 131360750
12 SPTAN1 NM_001130438.2(SPTAN1): c.3486C> T (p.Leu1162=) single nucleotide variant Benign rs2227864 GRCh38 Chromosome 9, 128598471: 128598471
13 SPTAN1 NM_001130438.2(SPTAN1): c.3546T> C (p.Asp1182=) single nucleotide variant Benign/Likely benign rs945831 GRCh37 Chromosome 9, 131362361: 131362361
14 SPTAN1 NM_001130438.2(SPTAN1): c.3546T> C (p.Asp1182=) single nucleotide variant Benign/Likely benign rs945831 GRCh38 Chromosome 9, 128600082: 128600082
15 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh37 Chromosome 9, 131370183: 131370183
16 SPTAN1 NM_001130438.2(SPTAN1): c.4199A> T (p.Gln1400Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs143108250 GRCh38 Chromosome 9, 128607904: 128607904
17 SPTAN1 NM_001130438.2(SPTAN1): c.5437C> A (p.Arg1813=) single nucleotide variant Benign/Likely benign rs3750333 GRCh37 Chromosome 9, 131379998: 131379998
18 SPTAN1 NM_001130438.2(SPTAN1): c.5437C> A (p.Arg1813=) single nucleotide variant Benign/Likely benign rs3750333 GRCh38 Chromosome 9, 128617719: 128617719
19 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh37 Chromosome 9, 131388888: 131388888
20 SPTAN1 NM_001130438.2(SPTAN1): c.6498C> A (p.Arg2166=) single nucleotide variant Conflicting interpretations of pathogenicity rs72758823 GRCh38 Chromosome 9, 128626609: 128626609
21 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Conflicting interpretations of pathogenicity rs587784440 GRCh37 Chromosome 9, 131394551: 131394559
22 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) duplication Conflicting interpretations of pathogenicity rs587784440 GRCh38 Chromosome 9, 128632272: 128632280
23 SLC25A22 NM_024698.5(SLC25A22): c.561C> T (p.Tyr187=) single nucleotide variant Benign/Likely benign rs77117049 GRCh37 Chromosome 11, 792579: 792579
24 SLC25A22 NM_024698.5(SLC25A22): c.561C> T (p.Tyr187=) single nucleotide variant Benign/Likely benign rs77117049 GRCh38 Chromosome 11, 792579: 792579
25 SLC25A22 NM_024698.5(SLC25A22): c.234C> T (p.Pro78=) single nucleotide variant Benign/Likely benign rs80335370 GRCh37 Chromosome 11, 793588: 793588
26 SLC25A22 NM_024698.5(SLC25A22): c.234C> T (p.Pro78=) single nucleotide variant Benign/Likely benign rs80335370 GRCh38 Chromosome 11, 793588: 793588
27 SLC25A22 NM_024698.5(SLC25A22): c.169G> A (p.Val57Ile) single nucleotide variant Benign/Likely benign rs150242281 GRCh37 Chromosome 11, 794491: 794491
28 SLC25A22 NM_024698.5(SLC25A22): c.169G> A (p.Val57Ile) single nucleotide variant Benign/Likely benign rs150242281 GRCh38 Chromosome 11, 794491: 794491
29 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh37 Chromosome X, 18606141: 18606141
30 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 GRCh38 Chromosome X, 18588021: 18588021
31 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
32 ATP1A3 NM_001256214.1(ATP1A3): c.449C> T (p.Ser150Phe) single nucleotide variant Pathogenic rs542652468 GRCh37 Chromosome 19, 42490329: 42490329
33 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
34 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
35 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh37 Chromosome 21, 38862575: 38862575
36 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
37 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh37 Chromosome 21, 38862656: 38862656
38 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
39 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh37 Chromosome 21, 38862757: 38862757
40 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh38 Chromosome 21, 37493101: 37493101
41 DYRK1A NM_001396.3(DYRK1A): c.1036T> C (p.Ser346Pro) single nucleotide variant Likely pathogenic rs724159951 GRCh37 Chromosome 21, 38865403: 38865403
42 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
43 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh37 Chromosome 21, 38868553: 38868553
44 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
45 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh37 Chromosome 21, 38877655: 38877655
46 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh38 Chromosome 21, 37512002: 37512002
47 DYRK1A NM_001396.3(DYRK1A): c.1763C> A (p.Thr588Asn) single nucleotide variant Likely pathogenic rs724159955 GRCh37 Chromosome 21, 38884305: 38884305
48 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 GRCh38 Chromosome 4, 127921956: 127921956
49 MFSD8 NM_152778.2(MFSD8): c.1006G> C (p.Glu336Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150418024 GRCh37 Chromosome 4, 128843111: 128843111
50 EPM2A NM_005670.3(EPM2A): c.136G> C (p.Ala46Pro) single nucleotide variant Benign rs374338349 GRCh37 Chromosome 6, 146056499: 146056499

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 glutamatergic synapse GO:0098978 9.46 CDKL5 DNM1 MYO5A PURA
2 postsynapse GO:0098794 9.13 MECP2 MYO5A PURA
3 dendrite cytoplasm GO:0032839 8.8 CDKL5 HNRNPU PURA

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

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 9.5 COL3A1 SLC2A1 TSC1
2 glutamine metabolic process GO:0006541 9.48 MECP2 PHGDH
3 neuromuscular process controlling posture GO:0050884 9.46 MECP2 PRRT2
4 response to inorganic substance GO:0010035 9.43 ADNP PTEN
5 neuron maturation GO:0042551 9.4 CLN5 MECP2
6 negative regulation of cell size GO:0045792 9.37 PTEN TSC1
7 multicellular organismal response to stress GO:0033555 9.26 MECP2 PTEN
8 locomotion involved in locomotory behavior GO:0031987 9.16 CLN6 MYO5A
9 lysosomal lumen acidification GO:0007042 8.96 CLN5 CLN6
10 dendritic transport of messenger ribonucleoprotein complex GO:0098963 8.62 HNRNPU PURA

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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