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 44 40
Epilepsy, Visual 12
Visual Seizure 72

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 44 D012640
NCIt 50 C3980
SNOMED-CT 68 39194005
UMLS 72 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as seizures, is related to ceroid lipofuscinosis, neuronal, 11 and microcephaly, and has symptoms including seizures An important gene associated with Visual Epilepsy is CLN6 (CLN6 Transmembrane ER Protein). 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 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 2919)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 11 33.1 CTSF CLN6 CLN5
2 microcephaly 33.0 DYRK1A DHX30 CDKL5 BPTF ARFGEF2
3 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 33.0 CLN6 CLN5
4 ceroid lipofuscinosis, neuronal, 2 32.8 CTSF CLN6 CLN5
5 ceroid lipofuscinosis, neuronal, 10 32.5 CLN6 CLN5
6 ceroid lipofuscinosis, neuronal, 7 32.5 CLN6 CLN5
7 ceroid lipofuscinosis, neuronal, 9 32.4 CLN6 CLN5
8 ceroid lipofuscinosis, neuronal, 13 32.3 CTSF CLN5
9 neuronal ceroid lipofuscinosis 32.3 CTSF CLN6 CLN5
10 alacrima, achalasia, and mental retardation syndrome 32.1 DYRK1A DHX30 CUL4B C12orf57 BPTF
11 hydrocephalus, congenital, 1 31.2 ATP1A3 ALDH7A1
12 epilepsy 31.2 DEPDC5 CHRNA4 CDKL5 ATP1A3 ALDH7A1
13 focal epilepsy 31.1 DEPDC5 CHRNA4 CDKL5
14 neuronal ceroid-lipofuscinoses 30.7 CTSF CLN6 CLN5
15 generalized epilepsy with febrile seizures plus, type 7 12.5
16 generalized epilepsy with febrile seizures plus, type 2 12.5
17 malignant migrating partial seizures of infancy 12.5
18 febrile seizures 12.5
19 febrile seizures, familial, 8 12.5
20 generalized epilepsy with febrile seizures plus, type 1 12.5
21 seizures, benign familial infantile, 3 12.5
22 benign neonatal seizures 12.5
23 febrile seizures, familial, 11 12.5
24 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.5
25 genetic epilepsy with febrile seizures plus 12.5
26 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.5
27 generalized epilepsy with febrile seizures plus, type 9 12.5
28 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.5
29 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
30 microcephaly, seizures, and developmental delay 12.4
31 microcephaly, short stature, and polymicrogyria with or without seizures 12.4
32 febrile seizures, familial, 4 12.4
33 seizures, benign familial infantile, 2 12.4
34 seizures, benign familial neonatal, 1 12.4
35 generalized epilepsy with febrile seizures plus 12.4
36 seizures, scoliosis, and macrocephaly/microcephaly syndrome 12.4
37 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.4
38 multiple congenital anomalies-hypotonia-seizures syndrome 12.4
39 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 12.4
40 rigidity and multifocal seizure syndrome, lethal neonatal 12.4
41 dissociative seizures 12.4
42 febrile seizures, familial, 1 12.4
43 epilepsy with myoclonic-atonic seizures 12.4
44 seizures, cortical blindness, and microcephaly syndrome 12.4
45 primary aldosteronism, seizures, and neurologic abnormalities 12.4
46 hypomagnesemia, seizures, and mental retardation 2 12.4
47 hypomagnesemia, seizures, and mental retardation 1 12.4
48 seizures, benign familial infantile, 5 12.4
49 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 12.4
50 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.55 CDK20 CDKL5
2 Decreased viability GR00221-A-1 9.55 CDKL5
3 Decreased viability GR00221-A-2 9.55 CDKL5
4 Decreased viability GR00221-A-3 9.55 CDKL5
5 Decreased viability GR00221-A-4 9.55 CDK20 CDKL5 DYRK1A
6 Decreased viability GR00342-S-1 9.55 CDK20 CDKL5
7 Decreased viability GR00342-S-2 9.55 CDK20
8 Decreased viability GR00342-S-3 9.55 CDK20 CDKL5 DYRK1A
9 Decreased viability GR00402-S-2 9.55 CDK20 CDKL5 DYRK1A

MGI Mouse Phenotypes related to Visual Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ATP1A3 CDKL5 CHRNA1 CHRNA4 CLN6 CTSF
2 mortality/aging MP:0010768 9.83 ADNP ARFGEF2 ATP1A3 BPTF C12orf57 CHRNA1
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 675)
# 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
Methadone Approved, Illicit Phase 4 76-99-3 4095
6
Lumefantrine Approved Phase 4 82186-77-4 6437380
7
Artemether Approved Phase 4 71963-77-4 68911 119380
8
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
9
Verapamil Approved Phase 4 52-53-9 2520
10
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Sertraline Approved Phase 4 79617-96-2 68617
14
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
15
Imipramine Approved Phase 4 50-49-7 3696
16
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
17
4-Aminopyridine Approved Phase 4 504-24-5 1727
18
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
19
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
20
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
21
Cosyntropin Approved Phase 4 16960-16-0 16129617
22
Nicotine Approved Phase 4 54-11-5 942 89594
23
Remifentanil Approved Phase 4 132875-61-7 60815
24
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
25
Sodium citrate Approved, Investigational Phase 4 68-04-2
26
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
27
Liraglutide Approved Phase 4 204656-20-2 44147092
28
Pasireotide Approved Phase 4 396091-73-9 9941444
29
Parecoxib Approved Phase 4 198470-84-7
30
Cycloserine Approved Phase 4 68-41-7 6234 401
31
Codeine Approved, Illicit Phase 4 76-57-3 5284371
32
Clonidine Approved Phase 4 4205-90-7 2803
33
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
34
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
35
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
36
Ropinirole Approved, Investigational Phase 4 91374-21-9, 91374-20-8 5095 497540
37
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
38
Ephedrine Approved Phase 4 299-42-3 9294
39
Pseudoephedrine Approved Phase 4 90-82-4 7028
40
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
41
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
42
Physostigmine Approved, Investigational Phase 4 57-47-6 5983
43
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
44
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
45
Miglustat Approved Phase 4 72599-27-0 51634
46
Busulfan Approved, Investigational Phase 4 55-98-1 2478
47
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
48
Fludarabine Approved Phase 4 21679-14-1, 75607-67-9 30751
49
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
50
Baclofen Approved Phase 4 1134-47-0 2284

Interventional clinical trials:

(show top 50) (show all 1656)
# 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 Morphine Versus Methadone for Opiate Exposed Infants With Neonatal Abstinence Syndrome Unknown status NCT02851303 Phase 4 Morphine;Methadone
10 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
11 Combining Propofol With Therapeutic Hypothermia for Improving Survival and Neurological Prognoses in Patients Resuscitated From Cardiac Arrest Unknown status NCT02367755 Phase 4 Propofol;Lorazepam
12 Pharmacokinetic/Pharmacodynamic Model of Propofol in Children Unknown status NCT02544854 Phase 4 Propofol
13 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
14 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
15 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
16 An Open Label Study Of Zonegran (Zonisamide) In Patients With Partial Onset Seizures Completed NCT00215592 Phase 4 Zonegran
17 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
18 Pregabalin In Partial Seizures (Preps) : An Open-Label, International, Multicenter Add-On Therapy Trial Completed NCT00141427 Phase 4 Pregabalin
19 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
20 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
21 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
22 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
23 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
24 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
25 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4 Diclofenac, Paracetamol, Ibuprofen
26 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
27 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
28 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase and S100B in Focal Seizures Completed NCT02705768 Phase 4 Carbamazepine;Oxcarbazepine
29 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
30 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
31 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
32 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
33 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
34 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
35 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4 Keppra;Fosphenytoin;Dilantin
36 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
37 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
38 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
39 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
40 The Comparision of Different Doses of Sevoflurane for Induction of General Anesthesia in Electroconvulsive Therapy Completed NCT01905904 Phase 4 sevorane
41 Are Post Intracerebal Hemorrhage Prevented By Anti-Epileptic Treatment? Completed NCT01115959 Phase 4 valproic acid;placebo bid
42 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
43 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
44 Medication and Psychotherapy Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4 sertraline
45 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
46 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
47 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
48 A Prospective, Randomized, Open-label Clinical Trial to Assess Fever Following Simultaneous Versus Sequential Administration of PCV13, DTaP Vaccine and IIV in Young Children Completed NCT03165981 Phase 4
49 DEPOSITION: Pilot Study Decreasing Postoperative Blood Loss by Topical vs. Intravenous Tranexamic Acid in Open Cardiac Surgery Completed NCT03376061 Phase 4 Tranexamic Acid
50 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam

Search NIH Clinical Center for Visual Epilepsy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Fosphenytoin
Magnesium sulfate
Phenytoin
Tizanidine

Cochrane evidence based reviews: seizures

Genetic Tests for Visual Epilepsy

Anatomical Context for Visual Epilepsy

MalaCards organs/tissues related to Visual Epilepsy:

41
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
Traumatic lingual haematoma: Another unusual cause of upper airway obstruction in systemic lupus erythematosus. 38
31372486 2019
2
Ionic and synaptic mechanisms of seizure generation and epileptogenesis. 38
31150792 2019
3
Inhibition, oscillations and focal seizures: An overview inspired by some historical notes. 38
31125597 2019
4
"Mini" occipital seizures with accompanying ultra-slow waves (DC shift) on SEEG in a 14-year old child. 38
31227404 2019
5
Potassium Bromide in the Treatment of Pediatric Refractory Epilepsy. 38
31111774 2019
6
Clinical implications of scalp ictal EEG pattern in patients with temporal lobe epilepsy. 38
31319289 2019
7
From adagio to allegretto: The changing tempo of theta frequencies in epilepsy and its relation to interneuron function. 38
30798003 2019
8
A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 38
31185419 2019
9
Continuous EEG monitoring after brain tumor surgery. 38
31278599 2019
10
Cerebral aquaporin-4 expression is independent of seizures in tuberous sclerosis complex. 38
31078684 2019
11
Correlation between glioma location and preoperative seizures: a systematic review and meta-analysis. 38
30073426 2019
12
Focal epileptic seizures anticipation based on patterns of heart rate variability parameters. 38
31416541 2019
13
Comparison of kainate-induced seizures, cognitive impairment and hippocampal damage in male and female mice. 38
31269415 2019
14
The effect of exercise on GABA signaling pathway in the model of chemically induced seizures. 38
31326567 2019
15
Focal cortical dysplasia II-related seizures originate from the bottom of the dysplastic sulcus: A stereoelectroencephalography study. 38
31319288 2019
16
Neurodevelopmental outcomes at 9-14 months gestational age after treatment of neonatal seizures due to brain injury. 38
31278442 2019
17
Natural product incarvillateine aggravates epileptic seizures by inhibiting GABAA currents. 38
31242440 2019
18
First seizure presentations in adults: beyond assessment and treatment. 38
30948624 2019
19
Simultaneous bilateral neck of femur fractures in an adolescent secondary to hypocalcaemic seizure. 38
30308552 2019
20
Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group. 38
31254798 2019
21
Characterisation of neonatal seizures and their treatment using continuous EEG monitoring: a multicentre experience. 38
30472660 2019
22
Seizures in glioma patients: An overview of incidence, etiology, and therapies. 38
31352293 2019
23
The mGlu7 receptor provides protective effects against epileptogenesis and epileptic seizures. 38
31051234 2019
24
Dexmedetomidine to Treat 3, 4-Methylenedioxymethamphetamine-Induced Agitation in a 13-Month-Old Infant: A Case Report and Literature Review. 38
31404223 2019
25
Supratentorial Neurenteric Cyst: A Rare Differential for a Frontal Cyst. 38
31426248 2019
26
The role of the surgical technique in incidence of postoperative epileptic seizures in unruptured intracranial aneurysm clipping. 38
31279607 2019
27
Neurovascular Lesions in Pediatric Epilepsy. 38
31066328 2019
28
Predicting Response to Treatment of Epileptic Seizures: How Much Time and How Many AEDs Do We Need to Try? 38
31409152 2019
29
Tranexamic acid and convulsive seizures after off-pump coronary artery bypass surgery: the role of renal insufficiency. 38
31408168 2019
30
Cognitive impairment in the WAG/Rij rat absence model is secondary to absence seizures and depressive-like behavior. 38
31095993 2019
31
Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study. 38
30862409 2019
32
Predicting the outcomes of targeted temperature management for children with seizures and/or impaired consciousness accompanied by fever without known etiology. 38
30929765 2019
33
Metopic Craniosynostosis, Paroxysmal Dyskinesias, and Conversion Disorder (Psychogenic Nonepileptic Seizures) in an Early Adolescent with Depression: Challenges of Diagnosis and Treatment. 38
31348714 2019
34
Long-lasting changes in hippocampal GABAB-receptor mediated inhibition following early-life seizures in kindling-prone but not kindling-resistant rats. 38
31200097 2019
35
Acute effect of cannabidiol on the activity of various novel antiepileptic drugs in the maximal electroshock- and 6 Hz-induced seizures in mice: Pharmacodynamic and pharmacokinetic studies. 38
31377197 2019
36
Amygdala lesions reduce seizure-induced respiratory arrest in DBA/1 mice. 38
31399338 2019
37
Anxiety disorders in predominantly African American and Caribbean American adults with intractable epilepsy: The role of perceived epilepsy stigma. 38
31419635 2019
38
[Management of tumoral epilepsy in meningioma surgery: Review of the literature and survey of French national practices]. 38
31100348 2019
39
Donepezil increases resistance to induced seizures in a mouse model of Dravet syndrome. 38
31402621 2019
40
Hippocampal deletion of NaV1.1 channels in mice causes thermal seizures and cognitive deficit characteristic of Dravet Syndrome. 38
31346088 2019
41
Potentiating α2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome. 38
31045243 2019
42
A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient. 38
31414730 2019
43
A potential role of hypophosphatemia for diagnosing convulsive seizures: A case-control study. 38
31211423 2019
44
Treatment of drug-resistant epilepsy in patients with periventricular nodular heterotopia using RNS® System: Efficacy and description of chronic electrophysiological recordings. 38
31163364 2019
45
An evaluation of clobazam tablets and film (AQST-120) for the treatment of Lennox-Gastaut syndrome. 38
31373526 2019
46
Leaking the Diagnosis: A Case of Convulsive Status Epilepticus Due to Intracranial Hypotension. 38
31372926 2019
47
The risk of varenicline-induced seizure among those who have attempted to quit smoking using pharmacotherapy. 38
31252274 2019
48
Clinical features of campylobacter-associated benign convulsions with mild gastroenteritis compared with rotavirus convulsions. 38
31238195 2019
49
Etiology is the key determinant of neuroinflammation in epilepsy: Elevation of cerebrospinal fluid cytokines and chemokines in febrile infection-related epilepsy syndrome and febrile status epilepticus. 38
31283843 2019
50
Chronic alcohol abuse affects the clinical course and outcome of community-acquired bacterial meningitis. 38
31392446 2019

Variations for Visual Epilepsy

ClinVar genetic disease variations for Visual Epilepsy:

6 (show top 50) (show all 1613)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1): c.470dup (p.Thr158fs) duplication Pathogenic rs1057518821 1:43396343-43396343 1:42930672-42930672
2 ALDH7A1 NM_001182.5(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 5:125880712-125880712 5:126545020-126545020
3 UBE3A NM_130838.3(UBE3A): c.2212G> A (p.Gly738Arg) single nucleotide variant Pathogenic rs1057518770 15:25599683-25599683 15:25354536-25354536
4 DNAH7 NM_018897.3(DNAH7): c.10753T> C (p.Phe3585Leu) single nucleotide variant Pathogenic rs1057519439 2:196651859-196651859 2:195787135-195787135
5 MPP4 NM_033066.3(MPP4): c.946T> C (p.Trp316Arg) single nucleotide variant Pathogenic rs1057519443 2:202539978-202539978 2:201675255-201675255
6 DHX30 NM_138615.3(DHX30): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs1057519436 3:47888040-47888040 3:47846550-47846550
7 HIVEP1 NM_002114.4(HIVEP1): c.4089G> C (p.Met1363Ile) single nucleotide variant Pathogenic rs776300630 6:12124117-12124117 6:12123884-12123884
8 CDK20 NM_001039803.2(CDK20): c.564G> A (p.Trp188Ter) single nucleotide variant Pathogenic rs1057519438 9:90584834-90584834 9:87969919-87969919
9 SYN3 NM_001135774.2(SYN3): c.1441_1442delinsTT (p.Pro481Leu) indel Pathogenic rs1057519444 22:32914195-32914196 22:32518208-32518209
10 GSPT2 NM_018094.5(GSPT2): c.1021G> A (p.Val341Ile) single nucleotide variant Pathogenic rs1057519440 X:51487743-51487743 X:51744647-51744647
11 KCNQ2 NM_172107.4(KCNQ2): c.1229dup (p.Pro411fs) duplication Pathogenic rs886041339 20:62055548-62055548 20:63424195-63424195
12 SCN1A NM_006920.6(SCN1A): c.3690_3693del (p.Ile1229_Tyr1230insTer) deletion Pathogenic rs1553531385 2:166868772-166868775 2:166012262-166012265
13 POGZ NM_015100.4(POGZ): c.2771del (p.Pro924fs) deletion Pathogenic rs1553212868 1:151378740-151378740 1:151406264-151406264
14 SPAST NM_014946.3(SPAST): c.1039C> T (p.Gln347Ter) single nucleotide variant Pathogenic rs1553315329 2:32341222-32341222 2:32116153-32116153
15 STXBP1 NM_003165.4(STXBP1): c.360del (p.Lys120fs) deletion Pathogenic rs1554776954 9:130423415-130423415 9:127661136-127661136
16 KCNQ2 NM_172107.4(KCNQ2): c.869G> T (p.Gly290Val) single nucleotide variant Pathogenic rs397514582 20:62071009-62071009 20:63439656-63439656
17 KCNK4 NM_001317090.2(KCNK4): c.515C> A (p.Ala172Glu) single nucleotide variant Pathogenic 11:64064979-64064979 11:64297507-64297507
18 KCNK4 NM_001317090.2(KCNK4): c.730G> C (p.Ala244Pro) single nucleotide variant Pathogenic 11:64065650-64065650 11:64298178-64298178
19 CLN6 NM_017882.3(CLN6): c.214G> T (p.Glu72Ter) single nucleotide variant Pathogenic rs104894483 15:68506711-68506711 15:68214373-68214373
20 SCO2 NM_001169109.1(SCO2): c.418G> A (p.Glu140Lys) single nucleotide variant Pathogenic rs74315511 22:50962423-50962423 22:50523994-50523994
21 KCNQ2 NM_172107.4(KCNQ2): c.916G> A (p.Ala306Thr) single nucleotide variant Pathogenic rs74315390 20:62070962-62070962 20:63439609-63439609
22 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 X:119678034-119678034 X:120544179-120544179
23 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 4:1803571-1803571 4:1801844-1801844
24 CHRNA4 NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu) single nucleotide variant Pathogenic rs28931591 20:61981912-61981912 20:63350560-63350560
25 ALDH7A1 NM_001182.5(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 5:125919689-125919689 5:126583997-126583997
26 KCNQ2 NM_172107.4(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 20:62046439-62046439 20:63415086-63415086
27 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 X:48933232-48933232 X:49075573-49075573
28 C12orf57 NM_138425.4(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs587776954 12:7053285-7053285 12:6944122-6944122
29 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 9:135778027-135778027 9:132902640-132902640
30 TSC1 NM_000368.4(TSC1): c.2509_2512del (p.Asn837fs) deletion Pathogenic rs118203707 9:135776215-135776218 9:132900828-132900831
31 DEPDC5 NM_001242897.2(DEPDC5): c.1663C> T (p.Arg555Ter) single nucleotide variant Pathogenic rs587776973 22:32211195-32211195 22:31815209-31815209
32 GABRG2 NM_198903.2(GABRG2): c.1088G> A (p.Arg363Gln) single nucleotide variant Pathogenic rs397514737 5:161576159-161576159 5:162149153-162149153
33 SCN1A NM_006920.6(SCN1A): c.777C> A (p.Ser259Arg) single nucleotide variant Pathogenic rs121918735 2:166908416-166908416 2:166051906-166051906
34 COL3A1 NM_000090.3(COL3A1): c.2933G> A (p.Gly978Asp) single nucleotide variant Pathogenic rs587779595 2:189870077-189870077 2:189005351-189005351
35 MECP2 NM_004992.3(MECP2): c.674C> G (p.Pro225Arg) single nucleotide variant Pathogenic rs61749715 X:153296605-153296605 X:154031154-154031154
36 PURA NM_005859.5(PURA): c.812_814del (p.Phe271del) deletion Pathogenic rs587782991 5:139494578-139494580 5:140114993-140114995
37 PURA NM_005859.5(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 5:139494322-139494322 5:140114737-140114737
38 PURA NM_005859.5(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 5:139494055-139494055 5:140114470-140114470
39 PURA NM_005859.5(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 5:139494129-139494129 5:140114544-140114544
40 PURA NM_005859.5(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 5:139494549-139494549 5:140114964-140114964
41 PURA NM_005859.5(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 5:139494031-139494031 5:140114446-140114446
42 PURA NM_005859.5(PURA): c.263_265del (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 5:139494029-139494031 5:140114444-140114446
43 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 5:176662864-176662864 5:177235863-177235863
44 CDKL5 NM_003159.2(CDKL5): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs587783405 X:18606141-18606141 X:18588021-18588021
45 ATP1A3 NM_152296.5(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 19:42490329-42490329 19:41986177-41986177
46 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic 21:38007970-39747620 :0-0
47 DYRK1A NM_001396.4(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 21:38862575-38862575 21:37490273-37490273
48 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282fs) duplication Pathogenic rs724159954 21:38862656-38862656 21:37490354-37490354
49 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316fs) duplication Pathogenic rs724159952 21:38862757-38862757 21:37490455-37490455
50 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413fs) duplication Pathogenic rs724159956 21:38868553-38868553 21:37496251-37496251

Copy number variations for Visual Epilepsy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 300885 14 66102556 66605185 Microdeletions GPHN Seizures

Expression for Visual Epilepsy

Search GEO for disease gene expression data for Visual Epilepsy.

Pathways for Visual Epilepsy

GO Terms for Visual Epilepsy

Cellular components related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.46 DYRK1A DNM1 ATP1A3 ADNP
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 8.96 CHRNA4 CHRNA1
2 lysosomal lumen acidification GO:0007042 8.62 CLN6 CLN5

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

# Name GO ID Score Top Affiliating Genes
1 acetylcholine-gated cation-selective channel activity GO:0022848 9.16 CHRNA4 CHRNA1
2 acetylcholine binding GO:0042166 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet