MCID: VSL002
MIFTS: 57

Visual Epilepsy

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Visual Epilepsy

MalaCards integrated aliases for Visual Epilepsy:

Name: Visual Epilepsy 12 15
Seizures 43 39
Epilepsy, Visual 12
Visual Seizure 71

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 43 D012640
NCIt 49 C3980
SNOMED-CT 67 39194005
UMLS 71 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as seizures, is related to epileptic encephalopathy, early infantile, 6 and benign familial infantile epilepsy, and has symptoms including seizures An important gene associated with Visual Epilepsy is CLN6 (CLN6 Transmembrane ER Protein), and among its related pathways/superpathways is Lysosome. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are mortality/aging and nervous system

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 2921)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 34.2 DEPDC5 CHRNA4 CDKL5
2 benign familial infantile epilepsy 34.1 DEPDC5 CHRNA4 CDKL5 ATP1A3
3 childhood absence epilepsy 33.7 DEPDC5 CHRNA4 CDKL5
4 early infantile epileptic encephalopathy 33.4 DNM1 DEPDC5 CHRNA4 CDKL5 ATP1A3
5 ceroid lipofuscinosis, neuronal, 3 33.2 TPP1 CTSF CLN6 CLN5
6 unverricht-lundborg syndrome 33.2 CLN6 CLN5 CHRNA4
7 benign epilepsy with centrotemporal spikes 33.2 DEPDC5 CHRNA4 CDKL5
8 ceroid lipofuscinosis, neuronal, 11 32.9 CTSF CLN6 CLN5
9 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.9 CLN6 CLN5
10 progressive myoclonus epilepsy 32.8 TPP1 CLN6 CLN5
11 ceroid lipofuscinosis, neuronal, 6 32.7 CLN6 CLN5
12 ceroid lipofuscinosis, neuronal, 10 32.6 TPP1 CTSF CLN6 CLN5
13 ceroid lipofuscinosis, neuronal, 2 32.6 TPP1 CLN6 CLN5
14 neuronal ceroid lipofuscinosis 32.6 TPP1 CTSF CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 1 32.6 TPP1 CTSF CLN6 CLN5
16 ceroid lipofuscinosis, neuronal, 7 32.6 TPP1 CTSF CLN6 CLN5
17 adult neuronal ceroid lipofuscinosis 32.5 TPP1 CLN6
18 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.4 TPP1 DNM1 CLN6
19 neuronal ceroid-lipofuscinoses 32.4 CLN6 CLN5
20 mucopolysaccharidosis iii 32.4 TPP1 CLN6 CLN5
21 ceroid lipofuscinosis, neuronal, 13 32.3 TPP1 CTSF CLN6 CLN5
22 ceroid lipofuscinosis, neuronal, 9 32.3 TPP1 CLN6 CLN5
23 epileptic encephalopathy, early infantile, 9 32.2 DEPDC5 CDKL5
24 alacrima, achalasia, and mental retardation syndrome 32.0 DHX30 CUL4B C12orf57 BPTF
25 lipid storage disease 32.0 TPP1 CLN6 CLN5
26 helsmoortel-van der aa syndrome 31.9 TPP1 ADNP
27 autism 31.7 DEPDC5 CHRNA4 CHRNA1 CDKL5 BPTF ADNP
28 epilepsy 31.2 DEPDC5 CLN6 CLN5 CHRNA4 CDKL5 ATP1A3
29 hydrocephalus, congenital, 1 31.0 ATP1A3 ALDH7A1
30 focal epilepsy 30.8 DEPDC5 CHRNA4 CDKL5
31 ceroid storage disease 30.6 TPP1 CLN6 CLN5
32 epilepsy, myoclonic juvenile 30.5 DEPDC5 CHRNA4 CDKL5
33 malignant migrating partial seizures of infancy 12.6
34 generalized epilepsy with febrile seizures plus, type 7 12.5
35 generalized epilepsy with febrile seizures plus, type 2 12.5
36 febrile seizures 12.5
37 febrile seizures, familial, 8 12.5
38 generalized epilepsy with febrile seizures plus, type 1 12.5
39 seizures, benign familial infantile, 3 12.5
40 benign neonatal seizures 12.5
41 febrile seizures, familial, 11 12.5
42 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.5
43 genetic epilepsy with febrile seizures plus 12.5
44 generalized epilepsy with febrile seizures plus, type 9 12.5
45 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.5
46 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.5
47 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
48 microcephaly, seizures, and developmental delay 12.4
49 microcephaly, short stature, and polymicrogyria with or without seizures 12.4
50 febrile seizures, familial, 4 12.4

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.83 ADNP ARFGEF2 ATP1A3 BPTF C12orf57 CHRNA1
2 nervous system MP:0003631 9.5 ADNP ARFGEF2 ATP1A3 CDK20 CDKL5 CHRNA1

Drugs & Therapeutics for Visual Epilepsy

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

(show top 50) (show all 658)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Nitrazepam Approved Phase 4 146-22-5 4506
4
Ethosuximide Approved Phase 4 77-67-8 3291
5
Etomidate Approved Phase 4 33125-97-2 667484 36339
6
Methadone Approved Phase 4 76-99-3 4095
7
Lumefantrine Approved Phase 4 82186-77-4 6437380
8
Artemether Approved Phase 4 71963-77-4 119380 68911
9
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
10
Verapamil Approved Phase 4 52-53-9 2520
11
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
12
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
13
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
14
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
15
Sertraline Approved Phase 4 79617-96-2 68617
16
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
17
Imipramine Approved Phase 4 50-49-7 3696
18
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
19
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
20
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
21
4-Aminopyridine Approved Phase 4 504-24-5 1727
22
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
23
Cosyntropin Approved Phase 4 16960-16-0 16129617
24
Nicotine Approved Phase 4 54-11-5 942 89594
25
Levonorgestrel Approved, Investigational Phase 4 17489-40-6, 797-63-7 13109
26
Remifentanil Approved Phase 4 132875-61-7 60815
27
Sodium citrate Approved, Investigational Phase 4 68-04-2
28
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
29
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
30
Liraglutide Approved Phase 4 204656-20-2 44147092
31
Pasireotide Approved Phase 4 396091-73-9 9941444
32
Parecoxib Approved Phase 4 198470-84-7
33
Cycloserine Approved Phase 4 68-41-7 401 6234
34
Clonidine Approved Phase 4 4205-90-7 2803
35
Codeine Approved, Illicit Phase 4 76-57-3 5284371
36
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
37
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
38
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
39
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
40
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
41
Ephedrine Approved Phase 4 299-42-3 9294
42
Pseudoephedrine Approved Phase 4 90-82-4 7028
43
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
44
Histamine Approved, Investigational Phase 4 51-45-6 774
45
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
46
Acetaminophen Approved Phase 4 103-90-2 1983
47
Lorazepam Approved Phase 4 846-49-1 3958
48
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
49
Physostigmine Approved, Investigational Phase 4 57-47-6 5983
50
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943

Interventional clinical trials:

(show top 50) (show all 1736)
# Name Status NCT ID Phase Drugs
1 Efficacy of Levetiracetam in Control of Neonatal Seizures Unknown status NCT03107507 Phase 4 Levetiracetam;Phenobarbital
2 Efficacy of Phenytoin in the Prophylaxis of Seizures of Patients With Pneumococcal Meningitis at Least 50 Yrs Old. A Multi-center Comparative Randomized Double-blind and Placebo-controlled Clinical Trial Unknown status NCT01478035 Phase 4 Phenytoin;placebo
3 Double Blind, Randomised, Cross-over Study Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
4 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) - a Placebo Controlled Double-blind Cross-over-study Unknown status NCT00393614 Phase 4 levetiracetam
5 A Randomised Controlled Trial of the Ketogenic Diet in the Treatment of Epilepsy in Children Under the Age of Two Years Unknown status NCT02205931 Phase 4 Antiepileptic drug therapy
6 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
7 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
8 Study to Improve the Treatment of Epilepsy (SITE). A Randomized Study Comparing Adjustment of Treatment to Reduce Side Effects of Antiepileptic Drugs With Continuing Treatment Unchanged Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
9 Combining Propofol With Therapeutic Hypothermia for Improving Survival and Neurological Prognoses in Patients Resuscitated From Cardiac Arrest Unknown status NCT02367755 Phase 4 Propofol;Lorazepam
10 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
11 Hyperventilation and ECT Seizure Duration: Effects on Cerebral Oxygen Saturation, and Therapeutic Outcome With Comparisons Between Etomidate and Ketamine in Patients With Major Depressive Disorder Unknown status NCT02924090 Phase 4 Etomidate;Ketamine
12 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
13 Morphine Versus Methadone for Opiate Exposed Infants With Neonatal Abstinence Syndrome Unknown status NCT02851303 Phase 4 Morphine;Methadone
14 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
15 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
16 Treatment for Alcohol Dependence With Gabapentin: A Double Blind Placebo Controlled Randomized Clinical Trial Unknown status NCT02771925 Phase 4 Gabapentin 2g/day divided in two doses for 24 weeks;Placebo 2g/day divided in two doses for 24 weeks
17 Efficacy and Safety of Artemether + Lumefantrine and Dihydroartemisinin + Piperaquine for the Treatment of Uncomplicated Malaria in Guinea-Bissau. Unknown status NCT01704508 Phase 4 Artemether-lumefantrine;Dihydroartemisinin-piperaquine
18 An Open Label Study Of Zonegran (Zonisamide) In Patients With Partial Onset Seizures Completed NCT00215592 Phase 4 Zonegran
19 Pregabalin In Partial Seizures (Preps) : An Open-Label, International, Multicenter Add-On Therapy Trial Completed NCT00141427 Phase 4 Pregabalin
20 A 24-Week Prospective, Open-Label, Multicenter Study to Evaluate the Effect on Seizure Frequency, Safety and Tolerability of Oxcarbazepine Monotherapy in Adult Patients With Partial Seizures Completed NCT00275925 Phase 4 Oxcarbazepine
21 Comparison Between Melatonin and Diazepam for Prevention of Recurrent Simple Febrile Seizures: Randomized Clinical Trial Completed NCT03631901 Phase 4 oral melatonin;oral diazepam
22 A 24-week Prospective Open-label Multicenter Study to Evaluate the Effect on Seizure Frequency, Safety and Tolerability of Oxcarbazepine Monotherapy in Children With Partial Seizures Completed NCT00275912 Phase 4 Oxcarbazepine
23 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Evaluation of Lamotrigine Adjunctive Therapy in Subjects Wtih Primary Generalized Tonic-Clonic Seizures Completed NCT00043901 Phase 4 lamotrigine
24 Multicenter, Open-label Trial, Evaluating the Efficacy and Safety of Perampanel Added to Monotherapy in Patients With Partial Onset Seizures With or Without Secondary Generalized Seizures Completed NCT02726074 Phase 4 Perampanel
25 A Randomized, Double-blind, Parallel-group Multi-center Comparative Flexible-dose Trial Of Pregabalin Versus Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures. Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
26 Lyrica (Pregabalin) Administered As An Add-On Therapy For Partial Seizures (LEADER) An Open-Label, Multicenter Add-On Therapy Trial Completed NCT00288639 Phase 4 Pregabalin
27 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
28 Efficacy and Safety of Intramuscular Midazolam Compared to Buccal Midazolam in Pediatric Seizures: A Randomized Controlled Trial Completed NCT02897856 Phase 4 Buccal midazolam;Intramuscular midazolam
29 A Phase IV, Open-label, Multi-center, Community-based Trial Studying the Safety and Efficacy of Keppra™ as Adjunctive Therapy in Adult Subjects With Uncontrolled Partial Epilepsy. Completed NCT00160654 Phase 4 Levetiracetam
30 A Prospective, Open-label 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 Sabril
31 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase and S100B in Focal Seizures Completed NCT02705768 Phase 4 Carbamazepine;Oxcarbazepine
32 A Randomized, Open Label, Comparative, Multi-center Clinical Trial to Determine the Efficacy and Safety of Topiramate Comparing With Carbamazepine in Benign Rolandic Epilepsy. Completed NCT00216567 Phase 4 topamax
33 An Open-label, Randomized, Multi-centre, Superiority Study to Compare, in Patients With Partial Onset Seizures, the Efficacy and Safety of Adjunctive Zonisamide vs Replacement With Zonisamide of the Last Added Antiepileptic Drug Completed NCT01630057 Phase 4 Adjunctive Zonisamide;Replacement with Zonisamide
34 A Randomized, Open-label, Parallel Group, Multi-center, Comparative, Phase IV Trial of Levetiracetam (LEV) Versus Topiramate (TPM) as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures Completed NCT01229735 Phase 4 Levetiracetam;Topiramate
35 A Multicenter, Double-blind, Placebo-controlled, Parallel Group Study of the Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Adult Female Subjects (18 to 40 Years of Age) With C1 Catamenial Epilepsy Completed NCT00630630 Phase 4 Levetiracetam
36 A Multicenter, Single-Arm, Open-Label, Post-Marketing Safety Study to Evaluate the Risk of Seizure Among Subjects With Metastatic Castration-Resistant Prostate Cancer (mCRPC) Treated With Enzalutamide Who Are at Potential Increased Risk of Seizure Completed NCT01977651 Phase 4 Enzalutamide
37 An Open-Label, Multicenter, Multinational Study of Lacosamide as First Add-On Anti-epileptic Drug (AED) Treatment in Subjects With Partial-Onset Seizures Completed NCT00955357 Phase 4 Lacosamide
38 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4 Keppra;Fosphenytoin;Dilantin
39 Postpartum Prophylaxis With Short Course Magnesium Sulfate in Severe Preeclampsia: a Randomized Clinical Trial Completed NCT01408979 Phase 4 Magnesium sulfate 12 hours;Magnesium sulfate 24 hours
40 Prospective Trial of Intravenous Levetiracetam in Patients With Primary Brain Tumors and at Least One Symptomatic Seizure Who Undergo Biopsy or Cytoreductive Surgery (HELLO-study) Completed NCT00571155 Phase 4 levetiracetam
41 Post-authorization, Observational and Prospective Follow up Study to Evaluate Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs Completed NCT00659958 Phase 4 Zonisamide
42 The Comparision of Different Doses of Sevoflurane for Induction of General Anesthesia in Electroconvulsive Therapy Completed NCT01905904 Phase 4 sevorane
43 A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions Completed NCT03712475 Phase 4 Pregabalin
44 Are Post Intracerebal Hemorrhage Prevented By Anti-Epileptic Treatment? Completed NCT01115959 Phase 4 valproic acid;placebo bid
45 OAETREAT Extra Ivermectin Treatment of Persons With Onchocerciasis-associated Epilepsy: a Completed NCT03852303 Phase 4 ivermectin
46 A Korean Open-label, Multi-center, Community-based Trial Assessing the Efficacy and Safety of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
47 A Multicentre, Randomised, Active Comparator, Parallel Group Study To Compare The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate Completed NCT00713622 Phase 4 Zonisamide;Sodium valproate
48 Medication and Psychotherapy Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4 sertraline
49 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
50 TOPAMAX� (Topiramate) Initiated as Monotherapy in Epilepsy (TIME): A Multicenter, Outpatient, Open-Label, Study to Evaluate the Dosing, Effectiveness and Safety of TOPAMAX� as Monotherapy in the Treatment of Epilepsy in Clinical Practice Completed NCT00266604 Phase 4 Topiramate

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:

40
Brain, Temporal Lobe, Cortex, Amygdala, Testes, Heart, Bone

Publications for Visual Epilepsy

Articles related to Visual Epilepsy:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
Astrocytic modulation of potassium under seizures. 61
31823867 2020
2
Activation of small conductance calcium-activated potassium channels suppresses seizure susceptibility in the genetically epilepsy-prone rats. 61
31783064 2020
3
[Focal epileptic seizures mimicking a stroke: neuroimaging and electroencephalographic correlations]. 61
31845754 2020
4
Tripolar concentric EEG electrodes reduce noise. 61
31809982 2020
5
Low-dose intranasal insulin improves cognitive function and suppresses the development of epilepsy. 61
31557476 2020
6
Nonconvulsive Seizures in Abusive Head Trauma. 61
31552777 2020
7
Safety and efficacy of adjunctive cenobamate (YKP3089) in patients with uncontrolled focal seizures: a multicentre, double-blind, randomised, placebo-controlled, dose-response trial. 61
31734103 2020
8
An unusual case of acoria in Sturge-Weber syndrome. 61
30295080 2020
9
Intraparenchymal hemorrhage and cerebral venous thrombosis in an adult with congenital porencephalic cyst presenting for generalized tonic-clonic seizures. 61
31762865 2020
10
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay. 61
31769173 2020
11
Brain-heart interaction revisited: Takotsubo syndrome secondary to seizures. 61
31495491 2020
12
Rational polytherapy in the treatment of cholinergic seizures. 61
31454548 2020
13
Seizures in infancy in the offspring of women with epilepsy. 61
31532859 2020
14
BET 2: Is keeping the eyes shut while fitting predictive of a psychogenic cause for seizures? 61
31848267 2020
15
Layer- and Cell-Specific Recruitment Dynamics during Epileptic Seizures In Vivo. 61
31657482 2020
16
Establishing functional brain networks using a nonlinear partial directed coherence method to predict epileptic seizures. 61
31614163 2020
17
Consensus statement for the management of generalized tonic-clonic seizures in Spain. 61
31529468 2020
18
Reconfiguration of dynamic large-scale brain network functional connectivity in generalized tonic-clonic seizures. 61
31517428 2020
19
The effect of the guidelines for management of febrile seizures 2015 on clinical practices: Nationwide survey in Japan. 61
31604594 2020
20
Expediting the sampling, decalcification, and forensic DNA analysis of large elephant ivory seizures to aid investigations and prosecutions. 61
31670244 2020
21
Involvement of peroxisome proliferator-activated receptor γ in anticonvulsant activity of α-asaronol against pentylenetetrazole-induced seizures in zebrafish. 61
31493468 2020
22
Network Basis of Seizures Induced by Deep Brain Stimulation: Literature Review and Connectivity Analysis. 61
31449994 2019
23
Psychoanalytical concepts of epilepsy. 61
31732330 2019
24
Seasonal distribution of febrile seizure and the relationship with respiratory and enteric viruses in Korean children based on nationwide registry data. 61
31675516 2019
25
Regression of Epileptogenesis by Inhibiting Tropomyosin Kinase B Signaling following a Seizure. 61
31525273 2019
26
Current Status of Continuous Electroencephalographic Monitoring in Critically Ill Children. 61
31493974 2019
27
Rhythmic ictal nonclonic hand (RINCH) motions in general EMU patients with focal epilepsy. 61
31848102 2019
28
[Mobile seizure monitoring in epilepsy patients]. 61
31673723 2019
29
Potential role of cannabidiol for seizure control in a patient with recurrent glioma. 61
31848037 2019
30
EEG Correlates of Delirium in Children and Young Adults With CD19-Directed CAR T Cell Treatment-Related Neurotoxicity. 61
31851018 2019
31
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. 61
30500434 2019
32
Temporal Horn Choroid Plexus Papilloma Presenting with Seizures in Adulthood: Clinical Case Report and Review of the Literature. 61
31493601 2019
33
Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus. 61
31849043 2019
34
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features. 61
31769253 2019
35
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy. 61
31675620 2019
36
Novel and de novo mutation of PCDH19 in Girls Clustering Epilepsy. 61
31714027 2019
37
Complementary and integrative medicine in epilepsy: What patients and physicians perceive. 61
31704582 2019
38
Epileptic activity in neurological deterioration after ischemic stroke, a continuous EEG study. 61
31594733 2019
39
Volume change in amygdala enlargement as a prognostic factor in patients with temporal lobe epilepsy: A longitudinal study. 61
31828789 2019
40
The Epidemiology of Epilepsy. 61
31852003 2019
41
Risk factors for seizure recurrence in a pediatric observation unit. 61
30709624 2019
42
Central-Positive Complexes: A Novel Characterization of Ictal Markers Induced During Electroconvulsive Therapy. 61
31764454 2019
43
Outcome of prolonged video-EEG monitoring in a new VA monitoring unit. 61
31805507 2019
44
Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice. 61
31503547 2019
45
Synthetic cannabinoid receptor agonists-induced recurrent seizure in elderly patient. 61
31839517 2019
46
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. 61
31618474 2019
47
Leaking the Diagnosis: A Case of Convulsive Status Epilepticus Due to Intracranial Hypotension. 61
31372926 2019
48
Do seizures compromise correction maintenance after spinal fusion in cerebral palsy scoliosis? 61
31821271 2019
49
Acute metabolic effects of tonic-clonic seizures. 61
31819916 2019
50
Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology. 61
31854203 2019

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 1628) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLN6 NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)SNV Pathogenic 4077 rs104894483 15:68506711-68506711 15:68214373-68214373
2 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
3 KCNQ2 NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)SNV Pathogenic 7382 rs74315390 20:62070962-62070962 20:63439609-63439609
4 CUL4B NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)SNV Pathogenic 11339 rs121434616 X:119678034-119678034 X:120544179-120544179
5 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
6 CHRNA4 NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu)SNV Pathogenic 17500 rs28931591 20:61981912-61981912 20:63350560-63350560
7 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
8 WDR45 NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)SNV Pathogenic 41912 rs387907329 X:48933232-48933232 X:49075573-49075573
9 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val)SNV Pathogenic 41942 rs587776954 12:7053285-7053285 12:6944122-6944122
10 TSC1 NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter)SNV Pathogenic 48943 rs118203682 9:135778027-135778027 9:132902640-132902640
11 TSC1 NM_001162426.2(TSC1):c.2506_2509del (p.Asn836fs)deletion Pathogenic 48971 rs118203707 9:135776215-135776218 9:132900828-132900831
12 KCNQ2 NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)SNV Pathogenic 21762 rs118192226 20:62046439-62046439 20:63415086-63415086
13 DEPDC5 NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter)SNV Pathogenic 50820 rs587776973 22:32211195-32211195 22:31815209-31815209
14 GABRG2 NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln)SNV Pathogenic 60708 rs397514737 5:161576159-161576159 5:162149153-162149153
15 SCN1A NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg)SNV Pathogenic 68673 rs121918735 2:166908416-166908416 2:166051906-166051906
16 COL3A1 NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp)SNV Pathogenic 101309 rs587779595 2:189870077-189870077 2:189005351-189005351
17 MECP2 NM_004992.3(MECP2):c.674C>G (p.Pro225Arg)SNV Pathogenic 143653 rs61749715 X:153296605-153296605 X:154031154-154031154
18 PURA NM_005859.5(PURA):c.812_814del (p.Phe271del)deletion Pathogenic 156403 rs587782991 5:139494578-139494580 5:140114993-140114995
19 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter)SNV Pathogenic 156405 rs587782993 5:139494322-139494322 5:140114737-140114737
20 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu)SNV Pathogenic 156406 rs587782994 5:139494055-139494055 5:140114470-140114470
21 PURA NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)SNV Pathogenic 156408 rs587782996 5:139494129-139494129 5:140114544-140114544
22 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)SNV Pathogenic 156409 rs587782997 5:139494549-139494549 5:140114964-140114964
23 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro)SNV Pathogenic 156411 rs587782999 5:139494031-139494031 5:140114446-140114446
24 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)deletion Pathogenic 156412 rs587783000 5:139494029-139494031 5:140114444-140114446
25 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
26 CDKL5 NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)SNV Pathogenic 158186 rs587783405 X:18606141-18606141 X:18588021-18588021
27 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)SNV Pathogenic 161122 rs542652468 19:42490329-42490329 19:41986177-41986177
28 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
29 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
30 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862656-38862656 21:37490354-37490354
31 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862757-38862757 21:37490455-37490455
32 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868553-38868553 21:37496251-37496251
33 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
34 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)duplication Pathogenic 183282 rs730882200 20:47570145-47570145 20:48953608-48953608
35 SCN1A NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter)SNV Pathogenic 189861 rs794726710 2:166870322-166870322 2:166013812-166013812
36 SCN1A NM_006920.6(SCN1A):c.4521dup (p.Pro1508fs)duplication Pathogenic 206920 rs794726825 2:166852550-166852550 2:165996040-165996040
37 KCNQ2 NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn)SNV Pathogenic 205917 rs796052653 20:62044879-62044879 20:63413526-63413526
38 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
39 TANGO2 NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)SNV Pathogenic 208823 rs752298579 22:20049061-20049061 22:20061538-20061538
40 KCNQ2 NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del)short repeat Pathogenic 211236 rs118192212 20:62070963-62070965 20:63439610-63439612
41 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
42 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
43 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911956-111911956 9:109149676-109149676
44 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)SNV Pathogenic 222073 rs869312873 13:101742197-101742197 13:101089846-101089846
45 PNPO NM_018129.4(PNPO):c.674G>A (p.Arg225His)SNV Pathogenic 223153 rs550423482 17:46024036-46024036 17:47946670-47946670
46 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
47 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys)SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551
48 TANGO2 NM_152906.5(TANGO2):c.57-1743_*10769deldeletion Pathogenic 224770 22:20029135-20062954 22:20041612-20075431
49 TANGO2 NM_152906.5(TANGO2):c.146-3605_451+2245deldeletion Pathogenic 224772 22:20048857-20058261
50 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg)SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235

Copy number variations for Visual Epilepsy from CNVD:

7
# CNVD ID Chromosome 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 10.89 TPP1 CTSF CLN5

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 9.46 TPP1 DEPDC5 CTSF CLN5
2 synapse GO:0045202 9.1 DNM1 CHRNA4 CHRNA1 CDKL5 ATP1A3 ARFGEF2
3 acetylcholine-gated channel complex GO:0005892 8.96 CHRNA4 CHRNA1

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

# Name GO ID Score Top Affiliating Genes
1 synaptic transmission, cholinergic GO:0007271 9.16 CHRNA4 CHRNA1
2 lysosomal lumen acidification GO:0007042 8.96 CLN6 CLN5
3 protein catabolic process GO:0030163 8.8 TPP1 CLN6 CLN5

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

# Name GO ID Score Top Affiliating Genes
1 acetylcholine binding GO:0042166 9.16 CHRNA4 CHRNA1
2 acetylcholine-gated cation-selective channel activity GO:0022848 8.96 CHRNA4 CHRNA1
3 acetylcholine receptor activity GO:0015464 8.62 CHRNA4 CHRNA1

Sources for Visual Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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