MCID: VSL002
MIFTS: 58

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 2930)
# 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 benign epilepsy with centrotemporal spikes 33.6 DEPDC5 CHRNA4 CDKL5
5 early infantile epileptic encephalopathy 33.4 DEPDC5 CHRNA4 CDKL5 ATP1A3
6 epilepsy, myoclonic juvenile 33.4 DEPDC5 CHRNA4 CDKL5
7 unverricht-lundborg syndrome 33.2 CLN6 CLN5 CHRNA4
8 ceroid lipofuscinosis, neuronal, 3 33.2 TPP1 CTSF CLN6 CLN5
9 ceroid lipofuscinosis, neuronal, 11 32.9 CTSF CLN6 CLN5
10 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 32.9 CLN6 CLN5
11 progressive myoclonus epilepsy 32.8 TPP1 CLN6 CLN5
12 ceroid lipofuscinosis, neuronal, 6 32.8 CLN6 CLN5
13 corpus callosum, agenesis of 32.8 DHX16 ADNP
14 neuronal ceroid lipofuscinosis 32.6 TPP1 CTSF CLN6 CLN5
15 ceroid lipofuscinosis, neuronal, 2 32.6 TPP1 CLN6 CLN5
16 ceroid lipofuscinosis, neuronal, 10 32.6 TPP1 CTSF CLN6 CLN5
17 ceroid lipofuscinosis, neuronal, 1 32.6 TPP1 CTSF CLN6 CLN5
18 ceroid lipofuscinosis, neuronal, 7 32.6 TPP1 CTSF CLN6 CLN5
19 adult neuronal ceroid lipofuscinosis 32.5 TPP1 CLN6
20 neuronal ceroid-lipofuscinoses 32.4 CLN6 CLN5
21 mucopolysaccharidosis iii 32.4 TPP1 CLN6 CLN5
22 ceroid lipofuscinosis, neuronal, 13 32.4 TPP1 CTSF CLN6 CLN5
23 ceroid lipofuscinosis, neuronal, 9 32.3 TPP1 CLN6 CLN5
24 epileptic encephalopathy, early infantile, 9 32.1 DEPDC5 CDKL5
25 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.1 TPP1 CLN6
26 alacrima, achalasia, and mental retardation syndrome 32.1 DHX37 DHX30 DHX16 CUL4B C12orf57 BPTF
27 lipid storage disease 32.0 TPP1 CLN6 CLN5
28 helsmoortel-van der aa syndrome 31.9 TPP1 ADNP
29 autism 31.8 DEPDC5 CHRNA4 CHRNA1 CDKL5 BPTF ADNP
30 epilepsy 31.2 DEPDC5 CLN6 CLN5 CHRNA4 CDKL5 ATP1A3
31 hydrocephalus, congenital, 1 31.0 ATP1A3 ALDH7A1
32 ceroid storage disease 30.6 TPP1 CLN6 CLN5
33 focal epilepsy 30.3 DEPDC5 CHRNA4 CDKL5
34 malignant migrating partial seizures of infancy 12.6
35 generalized epilepsy with febrile seizures plus, type 7 12.5
36 generalized epilepsy with febrile seizures plus, type 2 12.5
37 febrile seizures 12.5
38 febrile seizures, familial, 8 12.5
39 generalized epilepsy with febrile seizures plus, type 1 12.5
40 seizures, benign familial infantile, 3 12.5
41 benign neonatal seizures 12.5
42 febrile seizures, familial, 11 12.5
43 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.5
44 genetic epilepsy with febrile seizures plus 12.5
45 generalized epilepsy with febrile seizures plus, type 9 12.5
46 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.5
47 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.4
48 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.4
49 microcephaly, seizures, and developmental delay 12.4
50 microcephaly, short stature, and polymicrogyria with or without seizures 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 9.47 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 657)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Nitrazepam Approved Phase 4 146-22-5 4506
4
Ethosuximide Approved Phase 4 77-67-8 3291
5
Methadone Approved Phase 4 76-99-3 4095
6
Lumefantrine Approved Phase 4 82186-77-4 6437380
7
Artemether Approved Phase 4 71963-77-4 119380 68911
8
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
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 34911-55-2, 34841-39-9 444
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
Remifentanil Approved Phase 4 132875-61-7 60815
26
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
27
Sodium citrate Approved, Investigational Phase 4 68-04-2
28
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
29
Liraglutide Approved Phase 4 204656-20-2 44147092
30
Pasireotide Approved Phase 4 396091-73-9 9941444
31
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
32
Parecoxib Approved Phase 4 198470-84-7
33
Clonidine Approved Phase 4 4205-90-7 2803
34
Codeine Approved, Illicit Phase 4 76-57-3 5284371
35
Cycloserine Approved Phase 4 68-41-7 401 6234
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 215647-85-1, 99210-65-8
39
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
40
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
41
Pseudoephedrine Approved Phase 4 90-82-4 7028
42
Ephedrine Approved Phase 4 299-42-3 9294
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
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
48
Physostigmine Approved, Investigational Phase 4 57-47-6 5983
49
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
50
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676

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 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
10 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
11 Morphine Versus Methadone for Opiate Exposed Infants With Neonatal Abstinence Syndrome Unknown status NCT02851303 Phase 4 Morphine;Methadone
12 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
13 Combining Propofol With Therapeutic Hypothermia for Improving Survival and Neurological Prognoses in Patients Resuscitated From Cardiac Arrest Unknown status NCT02367755 Phase 4 Propofol;Lorazepam
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 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
20 Pregabalin In Partial Seizures (Preps) : An Open-Label, International, Multicenter Add-On Therapy Trial Completed NCT00141427 Phase 4 Pregabalin
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 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
27 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
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 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 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
34 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
35 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
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 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 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
41 The Comparision of Different Doses of Sevoflurane for Induction of General Anesthesia in Electroconvulsive Therapy Completed NCT01905904 Phase 4 sevorane
42 Are Post Intracerebal Hemorrhage Prevented By Anti-Epileptic Treatment? Completed NCT01115959 Phase 4 valproic acid;placebo bid
43 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
44 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
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 Efficacy and Safety of Eslicarbazepine Acetate as First Add-on to Levetiracetam or Lamotrigine Monotherapy or as Later Adjunctive Treatment for Subjects With Uncontrolled Partial-onset Seizures: A Multicenter, Open-label, Non-randomized Trial Completed NCT03116828 Phase 4 Eslicarbazepine acetate;Eslicarbazepine Acetate

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, Heart, Testes, 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
Astrocytic modulation of potassium under seizures. 61
31823867 2020
3
Long-term mortality of patients admitted to an intensive care unit with seizures: a population-based study. 61
32022911 2020
4
Safety and Tolerability of Adjunctive Eslicarbazepine Acetate in Pediatric Patients (Aged 4-17 Years) With Focal Seizures. 61
31878820 2020
5
Seizures in newborn infants without hypoxic ischemic encephalopathy - antenatal and labor-related risk factors: a case-control study. 61
30373414 2020
6
Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations. 61
31759955 2020
7
Antiepileptic effects of electrical stimulation of the piriform cortex. 61
31778664 2020
8
Reversible splenial lesion in a patient with new-onset refractory status epilepticus (NORSE). 61
31909228 2020
9
Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients. 61
31935626 2020
10
Current Evidence and Future Directions of Tranexamic Acid Use, Efficacy, and Dosing for Major Surgical Procedures. 61
31455576 2020
11
Monitoring for Poststroke Seizures. 61
32014163 2020
12
Does vaping cause seizures? The need for comprehensive drug testing. 61
31116046 2020
13
Preclinical testing of the ketogenic diet in fragile X mice. 61
31958482 2020
14
Comparison of fiber tract low frequency stimulation to focal and ANT stimulation in an acute rat model of focal cortical seizures. 61
31902689 2020
15
Phenytoin Pharmacokinetics and Cardiopulmonary Bypass: A Case of Seizures in the Postoperative Period. 61
31852595 2020
16
Increased Seizure Frequency Temporally Related to Vaping: Where There's Vapor, There's Seizures? 61
31917097 2020
17
Loss of presenilin 2 age-dependently alters susceptibility to acute seizures and kindling acquisition. 61
31862541 2020
18
Corrigendum to "Higher postictal parasympathetic activity following greater ictal heart rate increase in right- than left-sided seizures" [Epilepsy Behav 97 (2019) 161-168]. 61
31902647 2020
19
Genetic and molecular basis of epilepsy-related cognitive dysfunction. 61
32028124 2020
20
Epilepsy in brain metastasis: an emerging entity. 61
32034533 2020
21
Seizure Occurrences: Patient Report, Scalp EEG, and RNS Electrocorticography Findings. 61
32022773 2020
22
Rhythmic ictal nonclonic hand (RINCH) motions in general EMU patients with focal epilepsy. 61
31848102 2020
23
Refractory seizures: Prediction of outcome of surgical intervention based on results from PET-CT, PET-MRI and electroencephaolography. 61
31637946 2020
24
The potential effects of anticonvulsant drugs on neuropeptides and neurotrophins in pentylenetetrazol kindled seizures in the rat. 61
31518546 2020
25
Atmospheric Solids Analysis Probe Coupled to a Portable Mass Spectrometer for Rapid Identification of Bulk Drug Seizures. 61
32031401 2020
26
Nebivolol attenuates the anticonvulsant action of carbamazepine and phenobarbital against the maximal electroshock-induced seizures in mice. 61
32016836 2020
27
Predictors of clinically urgent intracranial pathology at neuroimaging in children with complex febrile seizures: a retrospective cross-sectional study. 61
31310688 2020
28
SCN1A Variants in vaccine-related febrile seizures: A prospective study. 61
31755124 2020
29
SCN8A heterozygous variants are associated with anoxic-epileptic seizures. 61
32040247 2020
30
Oral levetiracetam for prevention of busulfan-induced seizures in adult hematopoietic cell transplant. 61
32026356 2020
31
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. 61
31439720 2020
32
Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory? 61
32034940 2020
33
Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase. 61
31684799 2020
34
Variation in Prehospital Protocols for Pediatric Seizure Within the United States. 61
32011553 2020
35
The piriform cortex in epilepsy: What we learn from the kindling model. 61
31794746 2020
36
E-Cigarettes and Seizures. 61
32029335 2020
37
MR characteristics of unruptured intracranial arteriovenous malformations associated with seizure as initial clinical presentation. 61
31320549 2020
38
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature. 61
31569255 2020
39
Mindfulness-based therapy for psychogenic nonepileptic seizures. 61
31680023 2020
40
Model-based robust suppression of epileptic seizures without sensory measurements. 61
32015767 2020
41
Short-term neurodevelopmental outcomes of focal febrile seizures. 61
32019687 2020
42
Cardiorespiratory depression from brainstem seizure activity in freely moving rats. 61
31669732 2020
43
Treatment initiation decisions in newly diagnosed epilepsy-A longitudinal cohort study. 61
32020603 2020
44
Activation of small conductance calcium-activated potassium channels suppresses seizure susceptibility in the genetically epilepsy-prone rats. 61
31783064 2020
45
Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex. 61
31912454 2020
46
Gelastic seizures not associated with hypothalamic hamartoma: A long-term follow-up study. 61
31680025 2020
47
Tonic-clonic seizures in idiopathic generalized epilepsies: prevalence, risk factors, and outcome. 61
32030724 2020
48
Trazodone increases seizures in a genetic WAG/Rij rat model of absence epilepsy while decreasing them in penicillin-evoked focal seizure model. 61
31864946 2020
49
Nanoformulated ellagic acid ameliorates pentylenetetrazol-induced experimental epileptic seizures by modulating oxidative stress, inflammatory cytokines and apoptosis in the brains of male mice. 61
31728888 2020
50
Hyperventilation-induced high-amplitude rhythmic slowing: A mimicker of absence seizures in children. 61
31645312 2020

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 1639) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PURA NM_005859.5(PURA):c.812_814del (p.Phe271del)deletion Pathogenic 156403 rs587782991 5:139494576-139494578 5:140114991-140114993
2 PURA NM_005859.5(PURA):c.556C>T (p.Gln186Ter)SNV Pathogenic 156405 rs587782993 5:139494322-139494322 5:140114737-140114737
3 PURA NM_005859.5(PURA):c.289A>G (p.Lys97Glu)SNV Pathogenic 156406 rs587782994 5:139494055-139494055 5:140114470-140114470
4 PURA NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)SNV Pathogenic 156408 rs587782996 5:139494129-139494129 5:140114544-140114544
5 PURA NM_005859.5(PURA):c.783C>G (p.Tyr261Ter)SNV Pathogenic 156409 rs587782997 5:139494549-139494549 5:140114964-140114964
6 PURA NM_005859.5(PURA):c.265G>C (p.Ala89Pro)SNV Pathogenic 156411 rs587782999 5:139494031-139494031 5:140114446-140114446
7 PURA NM_005859.5(PURA):c.263_265del (p.Ile88_Ala89delinsThr)deletion Pathogenic 156412 rs587783000 5:139494029-139494031 5:140114444-140114446
8 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
9 CDKL5 NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)SNV Pathogenic 158186 rs587783405 X:18606141-18606141 X:18588021-18588021
10 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)SNV Pathogenic 161122 rs542652468 19:42490329-42490329 19:41986177-41986177
11 subset of 12 genes: DYRK1A NC_000021.8:g.(?_38007970)_(39747620_?)deldeletion Pathogenic 162157 21:38007970-39747620
12 DYRK1A NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)SNV Pathogenic 162152 rs724159948 21:38862575-38862575 21:37490273-37490273
13 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs)duplication Pathogenic 162159 rs724159954 21:38862655-38862656 21:37490353-37490354
14 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs)duplication Pathogenic 162156 rs724159952 21:38862753-38862754 21:37490451-37490452
15 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)duplication Pathogenic 162161 rs724159956 21:38868551-38868552 21:37496249-37496250
16 DYRK1A NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)SNV Pathogenic 162158 rs724159953 21:38877655-38877655 21:37505352-37505352
17 ARFGEF2 NM_006420.3(ARFGEF2):c.656dup (p.Val220fs)duplication Pathogenic 183282 rs730882200 20:47570141-47570142 20:48953604-48953605
18 SCN1A NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter)SNV Pathogenic 189861 rs794726710 2:166870322-166870322 2:166013812-166013812
19 SCN1A NM_006920.6(SCN1A):c.4521dup (p.Pro1508fs)duplication Pathogenic 206920 rs794726825 2:166852549-166852550 2:165996039-165996040
20 KCNQ2 NM_172107.3(KCNQ2):c.1687G>A (p.Asp563Asn)SNV Pathogenic 205917 rs796052653 20:62044879-62044879 20:63413526-63413526
21 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
22 TANGO2 NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)SNV Pathogenic 208823 rs752298579 22:20049061-20049061 22:20061538-20061538
23 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
24 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
25 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
26 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=)SNV Pathogenic 222073 rs869312873 13:101742197-101742197 13:101089846-101089846
27 PNPO NM_018129.4(PNPO):c.674G>A (p.Arg225His)SNV Pathogenic 223153 rs550423482 17:46024036-46024036 17:47946670-47946670
28 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
29 TANGO2 NM_152906.5(TANGO2):c.57-1743_*10769deldeletion Pathogenic 224770 22:20029135-20062954 22:20041612-20075431
30 TANGO2 NM_152906.5(TANGO2):c.146-3605_451+2245deldeletion Pathogenic 224772 22:20048857-20058261
31 PTEN NM_000314.7(PTEN):c.203A>G (p.Tyr68Cys)SNV Pathogenic 233777 rs876660634 10:89685308-89685308 10:87925551-87925551
32 CLN6 NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)SNV Pathogenic 4077 rs104894483 15:68506711-68506711 15:68214373-68214373
33 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
34 KCNQ2 NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)SNV Pathogenic 7382 rs74315390 20:62070962-62070962 20:63439609-63439609
35 CUL4B NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter)SNV Pathogenic 11339 rs121434616 X:119678034-119678034 X:120544179-120544179
36 ALDH7A1 NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)SNV Pathogenic 17995 rs121912708 5:125919689-125919689 5:126583997-126583997
37 FGFR3 NM_000142.4(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
38 CHRNA4 NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu)SNV Pathogenic 17500 rs28931591 20:61981912-61981912 20:63350560-63350560
39 KCNQ2 NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)SNV Pathogenic 21762 rs118192226 20:62046439-62046439 20:63415086-63415086
40 WDR45 NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)SNV Pathogenic 41912 rs387907329 X:48933232-48933232 X:49075573-49075573
41 C12orf57 NM_138425.4(C12orf57):c.1A>G (p.Met1Val)SNV Pathogenic 41942 rs587776954 12:7053285-7053285 12:6944122-6944122
42 TSC1 NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)SNV Pathogenic 48943 rs118203682 9:135778027-135778027 9:132902640-132902640
43 TSC1 NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)deletion Pathogenic 48971 rs118203707 9:135776215-135776218 9:132900828-132900831
44 DEPDC5 NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter)SNV Pathogenic 50820 rs587776973 22:32211195-32211195 22:31815209-31815209
45 GABRG2 NM_198903.2(GABRG2):c.1088G>A (p.Arg363Gln)SNV Pathogenic 60708 rs397514737 5:161576159-161576159 5:162149153-162149153
46 SCN1A NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys)SNV Pathogenic 68505 rs121917929 2:166903480-166903480 2:166046970-166046970
47 SCN1A NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg)SNV Pathogenic 68673 rs121918735 2:166908416-166908416 2:166051906-166051906
48 COL3A1 NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp)SNV Pathogenic 101309 rs587779595 2:189870077-189870077 2:189005351-189005351
49 MECP2 NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)SNV Pathogenic 143653 rs61749715 X:153296605-153296605 X:154031154-154031154
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 synapse GO:0045202 9.55 CHRNA4 CHRNA1 CDKL5 ATP1A3 ARFGEF2
2 lysosome GO:0005764 9.26 TPP1 DEPDC5 CTSF CLN5
3 acetylcholine-gated channel complex GO:0005892 8.62 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 helicase activity GO:0004386 9.5 DHX37 DHX30 DHX16
2 acetylcholine binding GO:0042166 9.26 CHRNA4 CHRNA1
3 acetylcholine-gated cation-selective channel activity GO:0022848 9.16 CHRNA4 CHRNA1
4 acetylcholine receptor activity GO:0015464 8.96 CHRNA4 CHRNA1
5 RNA helicase activity GO:0003724 8.8 DHX37 DHX30 DHX16

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