MCID: VSL002
MIFTS: 31

Visual Epilepsy malady

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Visual Epilepsy

Aliases & Descriptions for Visual Epilepsy:

Name: Visual Epilepsy 12 14
Epilepsy, Visual 12
Visual Seizure 69
Seizures 42

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 42 D012640
NCIt 47 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 seizure disorder and febrile seizures, and has symptoms including seizures An important gene associated with Visual Epilepsy is TANGO2 (Transport And Golgi Organization 2 Homolog). The drugs Pregabalin and Gabapentin have been mentioned in the context of this disorder. 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 121)
id Related Disease Score Top Affiliating Genes
1 seizure disorder 12.1
2 febrile seizures 12.1
3 malignant migrating partial seizures of infancy 12.1
4 benign neonatal seizures 12.0
5 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.0
6 febrile seizures, familial, 3b 12.0
7 dissociative seizures 12.0
8 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.0
9 epilepsy, generalized, with febrile seizures plus, type 2 12.0
10 epilepsy, generalized, with febrile seizures plus, type 3 12.0
11 generalized epilepsy with febrile seizures plus 12.0
12 microcephaly, seizures, and developmental delay 12.0
13 epilepsy, generalized, with febrile seizures plus, type 5 12.0
14 seizures, benign familial infantile, 3 12.0
15 epilepsy, generalized, with febrile seizures plus, type 1 12.0
16 scn1a-related seizure disorders 12.0
17 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.9
18 febrile seizures, familial, 11 11.9
19 epilepsy with generalized tonic-clonic seizures 11.9
20 seizures, benign familial infantile, 2 11.9
21 primary aldosteronism, seizures, and neurologic abnormalities 11.9
22 generalized epilepsy with febrile seizures plus, type 9 11.9
23 febrile seizures, familial, 4 11.9
24 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 11.9
25 rigidity and multifocal seizure syndrome, lethal neonatal 11.9
26 polymicrogyria with seizures 11.9
27 seizures, benign neonatal, type 2 11.9
28 seizures, benign neonatal, 1 11.9
29 febrile seizures, familial, 1 11.9
30 microcephaly, postnatal progressive, with seizures and brain atrophy 11.9
31 seizures, benign familial infantile, 1 11.8
32 seizures-scoliosis-macrocephaly syndrome 11.8
33 audiogenic seizures 11.8
34 arthrogryposis, mental retardation, and seizures 11.8
35 hypomagnesemia, seizures, and mental retardation 11.8
36 optic atrophy 10 with or without ataxia, mental retardation and seizures 11.8
37 seizures, benign familial infantile, 5 11.8
38 multiple congenital anomalies-hypotonia-seizures syndrome 11.8
39 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 11.8
40 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.7
41 short stature, brachydactyly, intellectual developmental disability, and seizures 11.7
42 cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly 11.7
43 pachygyria with mental retardation, seizures, and arachnoid cysts 11.7
44 acute encephalopathy with biphasic seizures and late reduced diffusion 11.7
45 benign partial epilepsy with secondarily generalized seizures in infancy 11.7
46 benign partial epilepsy of infancy with complex partial seizures 11.7
47 folinic acid-responsive seizures 11.7
48 eating seizures 11.7
49 dravet syndrome 11.7
50 mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity 11.7

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 MFSD8 PRRT2 PURA CLN6 CLN8 CUL4B
2 mortality/aging MP:0010768 9.56 CLN6 CLN8 CUL4B FRRS1L GNB1 KCNQ2
3 nervous system MP:0003631 9.23 CLN6 CLN8 CUL4B GNB1 KCNQ2 MFSD8

Drugs & Therapeutics for Visual Epilepsy

Drugs for Visual Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
2
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
3
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
4
Oxcarbazepine Approved Phase 4 28721-07-5 34312
5
Tiagabine Approved Phase 4 115103-54-3 60648
6
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
7
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
8
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
9 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
10 Antiparkinson Agents Phase 4,Phase 2
11 Diuretics, Potassium Sparing Phase 4,Phase 2
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
13 Sodium Channel Blockers Phase 4,Phase 2
14 Analgesics Phase 4,Phase 1
15 Anti-Anxiety Agents Phase 4,Phase 2
16 Antimanic Agents Phase 4
17 Anti-Obesity Agents Phase 4,Phase 3
18 Antioxidants Phase 4
19 calcium channel blockers Phase 4
20 Calcium, Dietary Phase 4
21 Central Nervous System Depressants Phase 4,Phase 2,Phase 1
22 Etiracetam Phase 4,Phase 2
23 Excitatory Amino Acid Antagonists Phase 4
24 Excitatory Amino Acids Phase 4
25 GABA Agents Phase 4,Phase 2,Phase 1
26 GABA Agonists Phase 4
27 Neuroprotective Agents Phase 4,Phase 3,Phase 2
28 Neurotransmitter Uptake Inhibitors Phase 4
29 Nootropic Agents Phase 4,Phase 2
30 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1
31 Protective Agents Phase 4,Phase 3,Phase 2
32 Psychotropic Drugs Phase 4,Phase 2
33 Tranquilizing Agents Phase 4,Phase 2
34
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
35
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
36
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
37
Ezogabine Approved Phase 3 150812-12-7 121892
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
39 Anti-Bacterial Agents Phase 2, Phase 3
40 Antibiotics, Antitubercular Phase 2, Phase 3
41 Antifungal Agents Phase 2, Phase 3
42 Anti-Infective Agents Phase 2, Phase 3
43 Immunosuppressive Agents Phase 2, Phase 3
44 Epoetin alfa Phase 3 113427-24-0
45 Hematinics Phase 3
46 Antiemetics Phase 3
47 Anti-Inflammatory Agents Phase 3
48 Antineoplastic Agents, Hormonal Phase 3
49 Autonomic Agents Phase 3
50 BB 1101 Phase 3

Interventional clinical trials:

(show top 50) (show all 58)
id Name Status NCT ID Phase
1 Study on Migraine and Headache in Epileptic Patients Completed NCT00642564 Phase 4
2 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
3 A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4
4 A Study of the Structure and Function of the Retina in Adult Patients With Refractory Complex Partial Seizures Treated With Vigabatrin (Sabril®) Completed NCT01278173 Phase 4
5 Vision Testing in Patients With Partial Seizures Receiving Either Lyrica or Placebo Recruiting NCT00351611 Phase 4
6 A Study to Evaluate the Safety and Tolerability and Explore the Efficacy of Zonisamide as add-on Therapy in Elderly Patients With Refractory Partial Seizures Terminated NCT01546688 Phase 4
7 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3
8 A Study on Safety and Efficacy of Two Doses of Topiramate as Monotherapy in the Treatment of Newly Diagnosed or Recurrent Epilepsy Completed NCT00231556 Phase 3
9 Open-label Extension Study of the Phase 3 VRX-RET-E22-301 Double-Blind Trial Completed NCT00310375 Phase 3
10 PAEAN - Erythropoietin for Hypoxic Ischaemic Encephalopathy in Newborns Recruiting NCT03079167 Phase 3
11 Dexamethasone in Herpes Simplex Virus Encephalitis Not yet recruiting NCT03084783 Phase 3
12 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
13 Double-blind Study in Paediatric Epileptic to Compare the Subject Preference for ESL Suspension Formulation With Alternative Flavours Completed NCT02021461 Phase 2
14 Staccato Alprazolam and Photoparoxysmal Response Completed NCT02351115 Phase 2
15 A 19-week Cognition Study of Levetiracetam in Children With Partial Onset Seizures Completed NCT00105040 Phase 2
16 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2
17 A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis Recruiting NCT01954693 Phase 2
18 Dexmedetomidine in Seizure Patients Completed NCT01116700 Phase 1
19 Effects of GABA Modulator AZD7325 on Cortical Excitability Completed NCT02135198 Phase 1
20 Effects of GABA Modulator AZD7325 on Cutaneous Sensation Completed NCT02530580 Phase 1
21 Emotional Processing and Memory Evaluation in Epilepsy Patients Unknown status NCT00486239 Early Phase 1
22 Protective Effect of Phenytoin on Glaucoma Unknown status NCT00739154
23 Neurofeedback Using TMS as an Assessment Tool Unknown status NCT01993316
24 Language Localization Using Repetitive Transcranial Magnetic Stimulation (rTMS) in Patients With Epilepsy Completed NCT00001672
25 Contribution of High Resolution EEG Functional Connectivity Measures to Presurgical Evaluation of Patients With Intractable Epilepsy Completed NCT01738516
26 EEG@HOME (Phase 2 of the Project) Completed NCT02408653
27 Non-Invasive Seizure Localization in Patients With Medically Refractory Localization Related Epilepsy: Synchronized MEG-EEG Recordings Completed NCT00071305
28 Activating Effects of Sleep Deprivation on Synchronized MEG-EEG Recordings of Epilepsy Patients With Non-Diagnostic EEG Completed NCT00071370
29 Electrical Brain Stimulation to Reduce Epileptic Seizures Completed NCT00344877
30 Enhancing Physical Activity Levels in Children With Epilepsy Completed NCT01889901
31 Study to Evaluate a New Device Designed to Collect Heart Activity and Body Movement Data Completed NCT01626599
32 Determining the Extent of Diffusion Tensor Abnormalities in Focal Cortical Dysplasia Completed NCT00687024
33 (18)F-FDG PET Database of Adult Healthy Individuals Completed NCT03100227
34 Effects of Transcranial Direct Current Stimulation on Cigarette Addiction Completed NCT02146014
35 Developmental Effects On Children Of Women Who Take Antiepileptic Drugs During Pregnancy Completed NCT00021866
36 Clinical Study With Lyrica In Patients Suffering From Epilepsy Completed NCT00922987
37 A Clinical Study Examining the Safety and Effectiveness of a New Medication (Keppra®) for the Prevention of Migraine Headaches Completed NCT00203216
38 Ketogenic Diet in Lafora Disease Completed NCT00007124
39 Neuropsychological Evaluation of Psychiatric and Neurological Patients Completed NCT00001192
40 Treatment of Difficult to Control Focal Epilepsy With Repetitive Transcranial Magnetic Stimulation (rTMS) Completed NCT01745952
41 CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy Completed NCT00383305
42 Single Neurons Responses During Visual Recognition in Epileptic Patients Recruiting NCT02877576
43 Epileptogenic Zone's Cartography by Quantification of EEG's Signal and Intracerebral Stimulation. Recruiting NCT02844374
44 Feasibility of Stimulating the Visual Cortex in Blind Recruiting NCT02747589
45 Predictive Value of Biomarkers of the Alzheimer's Disease (AD) in Elderly Patients With New-onset Epilepsy Recruiting NCT02861846
46 Prediction of Brain Injury in Premature Infants Recruiting NCT02814383
47 Study of Lacosamide as an Adjunctive Drug Treatment for Epilepsy in Patients With Brain Tumors Recruiting NCT02276053
48 Subjective Perception of Motor Control During Psychogenic Disorders Recruiting NCT02843932
49 Improving Autism Screening With Brain-Related miRNA Recruiting NCT02712853
50 Facioscapulohumeral Dystrophy in Children Recruiting NCT02625662

Search 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:

39
Eye

Publications for Visual Epilepsy

Articles related to Visual Epilepsy:

id 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 65)
id Gene Variation Type Significance SNP ID Assembly Location
1 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh37 Chromosome 14, 81422146: 81422146
2 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
3 MTR NM_000254.2(MTR): c.3518C> T (p.Pro1173Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913578 GRCh37 Chromosome 1, 237058770: 237058770
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
5 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
6 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
7 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
8 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
9 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
10 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
11 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
12 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
13 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
14 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
15 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
16 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
17 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
18 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
19 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
20 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
21 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
22 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
23 DYRK1A NM_001396.4(DYRK1A): c.844dupA (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
24 DYRK1A NM_001396.4(DYRK1A): c.945dupG (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
25 DYRK1A NM_001396.4(DYRK1A): c.1232dupG (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
26 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
27 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
28 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh38 Chromosome 4, 106194717: 106194717
29 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
30 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
31 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
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 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
35 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
36 SCN2A NM_021007.2(SCN2A): c.2567G> A (p.Arg856Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045942 GRCh38 Chromosome 2, 165344559: 165344559
37 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
38 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
39 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
40 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
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

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

id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.56 CLN8 KCNQ2 MTR PURA
2 retina development in camera-type eye GO:0060041 9.37 CLN8 GNB1
3 protein catabolic process GO:0030163 9.32 CLN6 CLN8
4 neuromuscular process controlling posture GO:0050884 9.16 CLN8 PRRT2
5 cellular macromolecule catabolic process GO:0044265 8.96 CLN6 CLN8
6 lysosome organization GO:0007040 8.8 CLN6 CLN8 MFSD8

Sources for Visual Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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