MCID: VSL002
MIFTS: 59

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 benign neonatal seizures and generalized epilepsy with febrile seizures plus, and has symptoms including seizures An important gene associated with Visual Epilepsy is MFSD8 (Major Facilitator Superfamily Domain Containing 8), and among its related pathways/superpathways is Lysosome. The drugs Carbamazepine and Nitrazepam have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are Decreased viability and Decreased viability

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 2979)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 34.9 KCNQ2 CHRNA4 CDKL5
2 generalized epilepsy with febrile seizures plus 34.8 KCNQ2 CHRNA4 CDKL5
3 epileptic encephalopathy, early infantile, 6 34.2 KCNQ2 CHRNA4 CDKL5
4 pyridoxamine 5-prime-phosphate oxidase deficiency 34.2 KCNQ2 ALDH7A1
5 benign familial infantile epilepsy 34.1 KCNQ2 CHRNA4 CDKL5 ATP1A3
6 early myoclonic encephalopathy 34.1 KCNQ2 CHRNA4 CDKL5
7 benign familial neonatal epilepsy 34.0 KCNQ2 CDKL5
8 childhood absence epilepsy 33.9 KCNQ2 CHRNA4 CDKL5
9 benign epilepsy with centrotemporal spikes 33.7 KCNQ2 CHRNA4 CDKL5
10 epileptic encephalopathy, early infantile, 14 33.6 CHRNA4 CDKL5
11 early infantile epileptic encephalopathy 33.5 KCNQ2 CHRNA4 CDKL5 ATP1A3 ALDH7A1
12 epilepsy, myoclonic juvenile 33.4 KCNQ2 CHRNA4 CDKL5
13 west syndrome 33.4 WDR45 KCNQ2 CDKL5 ARFGEF2
14 ceroid lipofuscinosis, neuronal, 3 33.3 TPP1 MFSD8 CTSF CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 11 33.2 TPP1 MFSD8 CTSF CLN6 CLN5
16 unverricht-lundborg syndrome 33.2 CLN6 CLN5 CHRNA4
17 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 33.1 MFSD8 CLN6 CLN5
18 epilepsy, nocturnal frontal lobe, 1 33.1 KCNQ2 CHRNA4
19 neuronal ceroid lipofuscinosis 32.7 TPP1 MFSD8 CTSF CLN6 CLN5
20 ceroid lipofuscinosis, neuronal, 10 32.7 TPP1 MFSD8 CTSF CLN6 CLN5
21 ceroid lipofuscinosis, neuronal, 2 32.6 TPP1 CLN6 CLN5
22 ceroid lipofuscinosis, neuronal, 1 32.6 TPP1 MFSD8 CTSF CLN6 CLN5
23 ceroid lipofuscinosis, neuronal, 7 32.6 TPP1 MFSD8 CTSF CLN6 CLN5
24 ceroid lipofuscinosis, neuronal, 6 32.6 MFSD8 CLN6 CLN5
25 adult neuronal ceroid lipofuscinosis 32.5 TPP1 CLN6
26 partial motor epilepsy 32.5 KCNQ2 CDKL5
27 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 32.4 KCNQ2 CHRNA4
28 neuronal ceroid-lipofuscinoses 32.4 CLN6 CLN5
29 ceroid lipofuscinosis, neuronal, 13 32.4 TPP1 MFSD8 CTSF CLN6 CLN5
30 ceroid lipofuscinosis, neuronal, 9 32.4 TPP1 MFSD8 CLN6 CLN5
31 epileptic encephalopathy, early infantile, 9 32.3 KCNQ2 CDKL5
32 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.2 TPP1 CLN6
33 alacrima, achalasia, and mental retardation syndrome 32.1 KCNQ2 CUL4B C12orf57 BPTF ANKRD11
34 progressive myoclonus epilepsy 3 32.1 TPP1 MFSD8 CLN6 CLN5
35 lipid storage disease 32.0 TPP1 CLN6 CLN5
36 autism 31.7 CHRNA4 CHRNA1 CDKL5 BPTF ANKRD11 ADNP
37 epilepsy 31.2 KCNQ2 CLN6 CLN5 CHRNA4 CDKL5 ATP1A3
38 hydrocephalus, congenital, 1 31.0 ATP1A3 ALDH7A1
39 progressive myoclonus epilepsy 30.8 TPP1 CLN6 CLN5
40 ceroid storage disease 30.6 TPP1 CLN6 CLN5
41 focal epilepsy 30.4 KCNQ2 CHRNA4 CDKL5
42 epilepsy, idiopathic generalized 30.3 KCNQ2 CHRNA4 CDKL5
43 seizure disorder 12.7
44 malignant migrating partial seizures of infancy 12.6
45 generalized epilepsy with febrile seizures plus, type 7 12.6
46 generalized epilepsy with febrile seizures plus, type 2 12.6
47 febrile seizures 12.5
48 generalized epilepsy with febrile seizures plus, type 1 12.5
49 febrile seizures, familial, 8 12.5
50 seizures, benign familial infantile, 3 12.5

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

GenomeRNAi Phenotypes related to Visual Epilepsy according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.1 CDK20 CDKL5
2 Decreased viability GR00055-A-2 10.1 CDK20 CDKL5
3 Decreased viability GR00221-A-1 10.1 CDKL5 COL3A1
4 Decreased viability GR00221-A-2 10.1 CDKL5 COL3A1
5 Decreased viability GR00221-A-3 10.1 CDKL5
6 Decreased viability GR00221-A-4 10.1 CDK20 CDKL5 COL3A1
7 Decreased viability GR00249-S 10.1 ANKRD11 ATP1A3 BPTF CDKL5 CHRNA1 KCNQ2
8 Decreased viability GR00342-S-1 10.1 CDK20 CDKL5
9 Decreased viability GR00342-S-2 10.1 CDK20
10 Decreased viability GR00342-S-3 10.1 CDK20 CDKL5
11 Decreased viability GR00381-A-1 10.1 WDR45
12 Decreased viability GR00386-A-1 10.1 ATP1A3 CLN5 KCNQ2
13 Decreased viability GR00402-S-2 10.1 CHRNA1
14 Increased the percentage of infected cells GR00402-S-1 8.32 CDKL5

MGI Mouse Phenotypes related to Visual Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ANKRD11 ATP1A3 CDKL5 CHRNA1 CHRNA4 CLN6
2 mortality/aging MP:0010768 9.8 ADNP ANKRD11 ARFGEF2 ATP1A3 BPTF C12orf57
3 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 637)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2
Nitrazepam Approved Phase 4 146-22-5 4506
3
Lorazepam Approved Phase 4 846-49-1 3958
4
Ethosuximide Approved Phase 4 77-67-8 3291
5
Etomidate Approved Phase 4 33125-97-2 36339 667484
6
Methadone Approved Phase 4 76-99-3 4095
7
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
8
Lumefantrine Approved Phase 4 82186-77-4 6437380
9
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
10
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
11
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
12
Verapamil Approved Phase 4 52-53-9 2520
13
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
14
Acetaminophen Approved Phase 4 103-90-2 1983
15
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
18
Sertraline Approved Phase 4 79617-96-2 68617
19
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
20
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
21
Imipramine Approved Phase 4 50-49-7 3696
22
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
23
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
24
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
25
4-Aminopyridine Approved Phase 4 504-24-5 1727
26
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
27
Cosyntropin Approved Phase 4 16960-16-0 16129617
28
Nicotine Approved Phase 4 54-11-5 942 89594
29
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
30
Sodium citrate Approved, Investigational Phase 4 68-04-2
31
Remifentanil Approved Phase 4 132875-61-7 60815
32
Pasireotide Approved Phase 4 396091-73-9 9941444
33
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
34
Liraglutide Approved Phase 4 204656-20-2 44147092
35
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
36
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
37
parecoxib Approved Phase 4 198470-84-7
38
Clonidine Approved Phase 4 4205-90-7 2803
39
Codeine Approved, Illicit Phase 4 76-57-3 5284371
40
Cycloserine Approved Phase 4 68-41-7 401 6234
41
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
42
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
43
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
44
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
45
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
46
Ephedrine Approved Phase 4 299-42-3 9294
47
Pseudoephedrine Approved Phase 4 90-82-4 7028
48
Histamine Approved, Investigational Phase 4 51-45-6 774
49
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
50
Physostigmine Approved, Investigational Phase 4 57-47-6 5983

Interventional clinical trials:

(show top 50) (show all 1819)
# 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 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
10 Combining Propofol With Therapeutic Hypothermia for Improving Survival and Neurological Prognoses in Patients Resuscitated From Cardiac Arrest Unknown status NCT02367755 Phase 4 Propofol;Lorazepam
11 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
12 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
13 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
14 Morphine Versus Methadone for Opiate Exposed Infants With Neonatal Abstinence Syndrome Unknown status NCT02851303 Phase 4 Morphine;Methadone
15 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
16 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
17 Prospective Assessment of Valproate on Ethanol Withdrawal Unknown status NCT03235531 Phase 4 Valproate;Lorazepam
18 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
19 An Open Label Study Of Zonegran (Zonisamide) In Patients With Partial Onset Seizures Completed NCT00215592 Phase 4 Zonegran
20 Pregabalin In Partial Seizures (Preps) : An Open-Label, International, Multicenter Add-On Therapy Trial Completed NCT00141427 Phase 4 Pregabalin
21 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
22 Comparison Between Melatonin and Diazepam for Prevention of Recurrent Simple Febrile Seizures: Randomized Clinical Trial Completed NCT03631901 Phase 4 oral melatonin;oral diazepam
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 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
25 Multicenter, Open-label Trial Evaluating the Efficacy and Safety of Perampanel Added to Monotherapy in Patients With Partial Onset Seizures With or Without Secondary Generalization Completed NCT02726074 Phase 4 Perampanel
26 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
27 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
28 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
29 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
30 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
31 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
32 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase and S100B in Focal Seizures Completed NCT02705768 Phase 4 Carbamazepine;Oxcarbazepine
33 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
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 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
36 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
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 A Multicenter, Single-arm, Open-label, Postmarketing 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
40 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
41 The Comparision of Different Doses of Sevoflurane for Induction of General Anesthesia in Electroconvulsive Therapy Completed NCT01905904 Phase 4 sevorane
42 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
43 Are Post Intracerebal Hemorrhage Prevented By Anti-Epileptic Treatment? Completed NCT01115959 Phase 4 valproic acid;placebo bid
44 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
45 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
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 OAETREAT Extra Ivermectin Treatment of Persons With Onchocerciasis-associated Epilepsy: a Completed NCT03852303 Phase 4 ivermectin
48 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
49 Medication and Psychotherapy Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4 sertraline
50 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4

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
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. 61
31862249 2020
2
MS275 reduces seizure-induced brain damage in developing rats by regulating p38 MAPK signaling pathways and epigenetic modification. 61
32522630 2020
3
CE-MS metabolic profiling of volume-restricted plasma samples from an acute mouse model for epileptic seizures to discover potentially involved metabolomic features. 61
32498853 2020
4
Acute symptomatic seizures following intracerebral hemorrhage in the rat collagenase model. 61
32497986 2020
5
Terminology for psychogenic nonepileptic seizures: The contribution of neuroimaging. 61
32249033 2020
6
The role of Orexin-A levels in epileptic seizure. 61
32485288 2020
7
Predictors of drug-resistance in epilepsy with auditory features. 61
32447239 2020
8
Functional seizures? "So I still have seizures, right?" 61
32451248 2020
9
Differentiating psychogenic nonepileptic from epileptic seizures: A mixed-methods, content analysis study. 61
32388401 2020
10
Characteristics of visual evoked potentials related to the electro-clinical expression of reflex seizures in photosensitive patients with idiopathic occipital lobe epilepsy. 61
32388124 2020
11
Effects of erythropoietin pretreatment on single dose pentylentetrazole-induced seizures in rats. 61
32003592 2020
12
Efficacy of hypothermia therapy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion. 61
32279899 2020
13
Reply to: We need a functioning name for PNES: Considering dissociative seizures. 61
32317162 2020
14
REM-sleep related hypermotor seizures: Video documentation and ictal source imaging. 61
32340922 2020
15
Factors associated with subjective cognitive function in epilepsy and psychogenic non-epileptic seizures. 61
32353671 2020
16
Cross-database evaluation of EEG based epileptic seizures detection driven by adaptive median feature baseline correction. 61
32417698 2020
17
Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant. 61
32303391 2020
18
Glutamatergic pathway in depressive-like behavior associated with pentylenetetrazole rat model of epilepsy with history of prolonged febrile seizures. 61
32376271 2020
19
Electrical Cortical Stimulation: Mapping for Function and Seizures. 61
32475491 2020
20
Efficacy and tolerability of treatment with lacosamide in children: Postmarketing experience from the Middle East. 61
32422546 2020
21
A survey of physicians' opinions about functional seizures (psychogenic nonepileptic seizures). 61
32320920 2020
22
Tuberous sclerosis complex associated intracranial lesion found by antenatal ultrasound. 61
32346461 2020
23
Seizures and Epilepsy in Autism Spectrum Disorder. 61
32471597 2020
24
CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice. 61
32445790 2020
25
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion. 61
32276107 2020
26
Seizures associated with coronavirus infections. 61
32416567 2020
27
SARS-CoV-2 can induce brain and spine demyelinating lesions. 61
32367205 2020
28
Networks in Posterior Cortex Epilepsies. 61
32475483 2020
29
Absence seizure provocation during routine EEG: Does position of the child during hyperventilation affect the diagnostic yield? 61
32446208 2020
30
Seizure occurrence in myelin oligodendrocyte glycoprotein antibody-associated disease: A systematic review and meta-analysis. 61
32222694 2020
31
Hypophosphatemia compared to classical biomarkers of tonic clonic seizures. 61
32305859 2020
32
GABRG2 Deletion Linked to Genetic Epilepsy with Febrile Seizures Plus Affects the Expression of GABAA Receptor Subunits and Other Genes at Different Temperatures. 61
32418750 2020
33
Tranexamic acid administration during total joint arthroplasty surgery is not associated with an increased risk of perioperative seizures: a national database analysis. 61
32381731 2020
34
Self-Report questionnaires for the diagnosis of psychogenic non-epileptic seizures in clinical practice. A comprehensive review of the available instruments. 61
32417685 2020
35
Electrographic Seizures and Brain Injury in Children Requiring Extracorporeal Membrane Oxygenation. 61
32299743 2020
36
"Negative T2 shine through" in patients with hyperglycemia and seizures: a frequently overlooked MRI pattern. 61
32219491 2020
37
Recurrent seizures cause immature brain injury and changes in GABA a receptor α1 and γ2 subunits. 61
32283447 2020
38
Driving rate and road traffic accidents in drivers with functional (psychogenic nonepileptic) seizures. 61
32408106 2020
39
The Humanistic and Economic Burden of Pediatric Focal Seizures in the United States. 61
32223583 2020
40
Lipoprotein receptor loss in forebrain radial glia results in neurological deficits and severe seizures. 61
32579270 2020
41
Seizures in Alzheimer's disease are highly recurrent and associated with a poor disease course. 61
32488295 2020
42
Who seizes longest? Impact of clinical and demographic factors. 61
32564369 2020
43
Long-term outcomes after epilepsy surgery, a retrospective cohort study linking patient-reported outcomes and routine healthcare data. 61
32554230 2020
44
Effect of total callosotomy on KCNQ2-related intractable epilepsy. 61
32532640 2020
45
Alice in wonderland syndrome in an elderly patient with focal onset epilepsy. 61
32284291 2020
46
Daily listening to Mozart reduces seizures in individuals with epilepsy: A randomized control study. 61
32524054 2020
47
The incidence of first seizures, epilepsy and seizure mimics in a geographically defined area. 61
32518150 2020
48
Prevalence and psychopathologic significance of hallucinations in individuals with a history of seizures. 61
32524599 2020
49
Illegal trade in wild cats and its link to Chinese-led development in Central and South America. 61
32484587 2020
50
Safe administration of low frequency rTMS in a patient with depression with recurrent antidepressant-associated hyponatremic seizures. 61
32502719 2020

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 1681) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC9A6 NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs)deletion Pathogenic 418996 rs1064793575 X:135098865-135098866 X:136016706-136016707
2 KCNQ2 NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)duplication Pathogenic 422786 rs886041339 20:62055547-62055548 20:63424194-63424195
3 POGZ NM_015100.4(POGZ):c.2771del (p.Pro924fs)deletion Pathogenic 523510 rs1553212868 1:151378740-151378740 1:151406264-151406264
4 SPAST NM_014946.3(SPAST):c.1039C>T (p.Gln347Ter)SNV Pathogenic 523507 rs1553315329 2:32341222-32341222 2:32116153-32116153
5 STXBP1 NM_003165.4(STXBP1):c.360del (p.Lys120fs)deletion Pathogenic 523458 rs1554776954 9:130423412-130423412 9:127661133-127661133
6 KCNQ2 NM_172107.4(KCNQ2):c.869G>T (p.Gly290Val)SNV Pathogenic 523563 rs397514582 20:62071009-62071009 20:63439656-63439656
7 KCNK4 NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)SNV Pathogenic 560221 rs1565369746 11:64064979-64064979 11:64297507-64297507
8 KCNK4 NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)SNV Pathogenic 560222 rs1189909394 11:64065650-64065650 11:64298178-64298178
9 PPP3CA NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)SNV Pathogenic 441272 rs1553925558 4:102030220-102030220 4:101109063-101109063
10 SCN1A NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer)deletion Pathogenic 436650 rs1553531385 2:166868772-166868775 2:166012262-166012265
11 SCN2A NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)SNV Pathogenic 410984 rs1060503101 2:166245292-166245292 2:165388782-165388782
12 ALDH7A1 NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs)duplication Pathogenic 590098 rs778003597 5:125894992-125894993 5:126559300-126559301
13 ALDH7A1 NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs)duplication Pathogenic 588446 rs1444879414 5:125930840-125930841 5:126595148-126595149
14 CTSF NM_003793.4(CTSF):c.649C>T (p.Arg217Ter)SNV Pathogenic 588283 rs375562245 11:66333834-66333834 11:66566363-66566363
15 STX1B NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)SNV Pathogenic 590057 rs780843272 16:31004504-31004504 16:30993183-30993183
16 POLG NM_002693.2(POLG):c.3104+3A>TSNV Pathogenic 587863 rs778573169 15:89862456-89862456 15:89319225-89319225
17 DEPDC5 NM_001242897.2(DEPDC5):c.3987C>G (p.Tyr1329Ter)SNV Pathogenic 590153 rs1569232705 22:32293551-32293551 22:31897565-31897565
18 DEPDC5 NM_001242897.2(DEPDC5):c.1870+2370_1870+2371delshort repeat Pathogenic 589219 rs1372605067 22:32217579-32217580 22:31821593-31821594
19 SCN1A NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs)duplication Pathogenic 599005 rs1559193213 2:166892659-166892660 2:166036149-166036150
20 FOXP1 NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter)SNV Pathogenic 626283 rs1559602356 3:71021728-71021728 3:70972577-70972577
21 ZNF142 NM_001105537.4(ZNF142):c.4002del (p.Leu1335fs)deletion Pathogenic 635279 2:219507237-219507237 2:218642514-218642514
22 subset of 34 genes: MAGEL2 , SNURF , UBE3A complex Pathogenic 638670 15:22676913-30137106
23 EEF1B2 NM_001959.4(EEF1B2):c.383C>A (p.Ser128Ter)SNV Pathogenic 689450 2:207026814-207026814 2:206162090-206162090
24 PGAP3 NM_033419.5(PGAP3):c.851A>G (p.His284Arg)SNV Pathogenic 599004 rs776720232 17:37829352-37829352 17:39673099-39673099
25 BPTF NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs)deletion Pathogenic 598947 rs1568070621 17:65914862-65914863 17:67918746-67918747
26 KCNT2 NM_198503.5(KCNT2):c.143_144del (p.Leu48fs)deletion Pathogenic 695094 1:196461423-196461424 1:196492293-196492294
27 KCNQ2 NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr)SNV Pathogenic 812512 20:62076076-62076076 20:63444723-63444723
28 SLC2A1 NM_006516.4(SLC2A1):c.732_735GAAG[1] (p.Glu246fs)short repeat Pathogenic 812757 1:43395392-43395395 1:42929721-42929724
29 WDR73 NM_032856.5(WDR73):c.42-1G>CSNV Pathogenic 812997 15:85196931-85196931 15:84653700-84653700
30 KCNA2 NM_004974.4(KCNA2):c.590del (p.Gly197fs)deletion Pathogenic 816892 1:111146815-111146815 1:110604193-110604193
31 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
32 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
33 SPTAN1 NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3])short repeat Pathogenic 160028 rs587784440 9:131394539-131394540 9:128632260-128632261
34 CDKL5 NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)SNV Pathogenic 158186 rs587783405 X:18606141-18606141 X:18588021-18588021
35 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
36 SCN8A NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)SNV Pathogenic 192317 rs876657399 12:52162699-52162699 12:51768915-51768915
37 SCN1A NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)SNV Pathogenic 189861 rs794726710 2:166870322-166870322 2:166013812-166013812
38 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)duplication Pathogenic 183282 rs730882200 20:47570141-47570142 20:48953604-48953605
39 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
40 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250
41 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452
42 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354
43 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
44 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)SNV Pathogenic 161122 rs542652468 19:42490329-42490329 19:41986177-41986177
45 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
46 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)deletion Pathogenic 156412 rs587783000 5:139494029-139494031 5:140114444-140114446
47 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro)SNV Pathogenic 156411 rs587782999 5:139494031-139494031 5:140114446-140114446
48 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)SNV Pathogenic 156409 rs587782997 5:139494549-139494549 5:140114964-140114964
49 PURA NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)SNV Pathogenic 156408 rs587782996 5:139494129-139494129 5:140114544-140114544
50 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu)SNV Pathogenic 156406 rs587782994 5:139494055-139494055 5:140114470-140114470

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 11.03 TPP1 MFSD8 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 synapse GO:0045202 9.1 KCNQ2 CHRNA4 CHRNA1 CDKL5 ATP1A3 ARFGEF2
2 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 9.26 CHRNA4 CHRNA1
2 lysosomal lumen acidification GO:0007042 9.16 CLN6 CLN5
3 protein catabolic process GO:0030163 9.13 TPP1 CLN6 CLN5
4 lysosome organization GO:0007040 8.92 TPP1 MFSD8 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 9.32 CHRNA4 CHRNA1
2 acetylcholine-gated cation-selective channel activity GO:0022848 9.26 CHRNA4 CHRNA1
3 acetylcholine receptor activity GO:0015464 9.16 CHRNA4 CHRNA1
4 lysophosphatidic acid binding GO:0035727 8.96 TPP1 CLN6
5 sulfatide binding GO:0120146 8.62 TPP1 CLN6

Sources for Visual Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11