PSE
MCID: PHT008
MIFTS: 42

Photosensitive Epilepsy (PSE)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Photosensitive Epilepsy

MalaCards integrated aliases for Photosensitive Epilepsy:

Name: Photosensitive Epilepsy 12 73 20 58 15
Reflex Epilepsy, Photosensitive 70
Photoparoxysmal Response 1 70
Photoparoxysmal Response 12
Photogenic Epilepsy 12
Pse 20

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060281
ICD10 32 G40.8
ICD10 via Orphanet 33 G40.5
UMLS via Orphanet 71 C0393720
Orphanet 58 ORPHA166409
UMLS 70 C0393720 C1868677

Summaries for Photosensitive Epilepsy

Disease Ontology : 12 An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.

MalaCards based summary : Photosensitive Epilepsy, also known as reflex epilepsy, photosensitive, is related to reflex epilepsy and febrile seizures. An important gene associated with Photosensitive Epilepsy is PPR1 (Photoparoxysmal Response 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. The drugs Valproic acid and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include cortex, eye and cerebellum, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 73 Photosensitive epilepsy (PSE) is a form of epilepsy in which seizures are triggered by visual stimuli... more...

Related Diseases for Photosensitive Epilepsy

Diseases related to Photosensitive Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 132)
# Related Disease Score Top Affiliating Genes
1 reflex epilepsy 30.9 SV2A SCN1A GABRG2
2 febrile seizures 30.2 SCN1A KCNQ2 GABRG2
3 seizure disorder 30.2 STXBP1 SCN1A PCDH19 KCNQ2 GABRG2 GABRA1
4 progressive myoclonus epilepsy 30.2 SCN1A NHLRC1 CLN6
5 encephalopathy 30.1 STXBP1 SCN1A PCDH19 KCNQ2
6 juvenile absence epilepsy 30.0 SCN1A GABRG2 GABRA1 EFHC1
7 epilepsy with generalized tonic-clonic seizures 30.0 SCN1A GABRG2 GABRA1 EFHC1
8 status epilepticus 29.9 SCN1A PCDH19 NHLRC1 KCNQ2
9 epilepsy 29.8 TRPC4 SV2A STXBP1 SCN1A PCDH19 NHLRC1
10 early myoclonic encephalopathy 29.5 SV2A STXBP1 SCN1A PCDH19 NHLRC1 KCNQ2
11 childhood absence epilepsy 29.3 SV2A STXBP1 SCN1A PCDH19 KCNQ2 GABRG2
12 epilepsy, myoclonic juvenile 29.3 SV2A STXBP1 SCN1A PCDH19 NHLRC1 KCNQ2
13 epilepsy, idiopathic generalized 29.2 SV2A STXBP1 SCN1A PCDH19 KCNQ2 GABRG2
14 photoparoxysmal response 2 11.5
15 photoparoxysmal response 3 11.5
16 timothy syndrome 11.1
17 chd2-related neurodevelopmental disorders 11.0
18 posttransplant acute limbic encephalitis 10.7
19 febrile infection-related epilepsy syndrome 10.3 SCN1A PCDH19
20 tetanus 10.3
21 myoclonus 10.3
22 hepatic encephalopathy 10.3
23 myoclonic epilepsy of infancy 10.3 SCN1A GABRG2
24 febrile seizures, familial, 6 10.2 SCN1A GABRG2
25 partial motor epilepsy 10.2 SCN1A KCNQ2
26 febrile seizures, familial, 5 10.2 SCN1A GABRG2
27 febrile seizures, familial, 11 10.2 SCN1A GABRG2
28 febrile seizures, familial, 2 10.2 SCN1A GABRG2 EFHC1
29 febrile seizures, familial, 1 10.2 SCN1A GABRG2 EFHC1
30 neuronal ceroid lipofuscinosis 10.2
31 epilepsy, familial temporal lobe, 5 10.2 SCN1A GABRG2
32 febrile seizures, familial, 8 10.2 SCN1A GABRG2
33 familial febrile seizures 10.2 SCN1A GABRG2 EFHC1
34 febrile seizures, familial, 4 10.1 SCN1A GABRG2
35 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A KCNQ2 GABRG2
36 central centrifugal cicatricial alopecia 10.1
37 liver cirrhosis 10.1
38 developmental and epileptic encephalopathy 1 10.1 STXBP1 SCN1A KCNQ2
39 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1A GABRG2
40 temporal lobe epilepsy 10.1
41 glycoproteinosis 10.1 NHLRC1 CLN6
42 portal hypertension 10.1
43 hepatic coma 10.1
44 hypersplenism 10.1
45 developmental and epileptic encephalopathy 9 10.1 STXBP1 SCN1A PCDH19 KCNQ2
46 migraine with or without aura 1 10.0
47 ataxia and polyneuropathy, adult-onset 10.0
48 focal epilepsy 10.0
49 hyperprolinemia, type i 10.0
50 iminoglycinuria 10.0

Graphical network of the top 20 diseases related to Photosensitive Epilepsy:



Diseases related to Photosensitive Epilepsy

Symptoms & Phenotypes for Photosensitive Epilepsy

MGI Mouse Phenotypes related to Photosensitive Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.77 BRD2 CLN6 EFHC1 GABRA1 GABRG2 KCNQ2
2 nervous system MP:0003631 9.44 BRD2 CLN6 EFHC1 GABRA1 GABRG2 KCNQ2

Drugs & Therapeutics for Photosensitive Epilepsy

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
2 Psychotropic Drugs Phase 4
3
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
4
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
5
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
6 Neurotransmitter Agents Phase 3
7 Pharmaceutical Solutions Phase 3
8 Serotonin Uptake Inhibitors Phase 3
9 Sunflower Phase 3
10
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
11
Lorazepam Approved Phase 2 846-49-1 3958
12
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
13
Alprazolam Approved, Illicit, Investigational Phase 2 28981-97-7 2118
14 Gastrointestinal Agents Phase 2
15 Hypnotics and Sedatives Phase 2
16 Antiemetics Phase 2
17 GABA Modulators Phase 2
18 Anti-Anxiety Agents Phase 2
19 Sodium Channel Blockers Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Nootropic Agents Phase 2
22 Analgesics Phase 2
23 Diuretics, Potassium Sparing Phase 2
24 Anticonvulsants Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
2 Does BRV Have a Faster Onset Time and Greater Effect Than LEV in Epilepsy Patients?: A Prospective, Randomized, Crossover, Double-blind, Controlled Intravenous Study Using the PPR as a Pharmacodynamic Efficacy Endpoint Completed NCT03580707 Phase 2, Phase 3 BRV vs LEV in randomized double blinded, crossover fashion
3 An Open-Label Treatment of ZX008 (Fenfluramine Hydrochloride) in Pediatric and Adult Epilepsy Patients (Ages 4-25) With Sunflower Syndrome. Active, not recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
4 A Double Blind, Randomized, Cross- Over Study Examining Efficacy Of Pf-06372865 In A Photosensitivity Epilepsy Study Using Lorazepam As A Positive Control Completed NCT02564029 Phase 2 PF-06372865;Placebo;Lorazepam
5 A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram Response in Patients With Photosensitive Epilepsy Completed NCT00579384 Phase 2 JNJ-26489112;Placebo
6 A Phase 2a, Multi-center, Single-blind, Within-subject, Placebo-controlled Study to Assess the Pharmacodynamics of ACT-709478 in Subjects With Photosensitive Epilepsy Completed NCT03239691 Phase 2 ACT-709478 for oral use;Placebo
7 A Multicenter, Single-blind, Within-subject, Placebo-controlled Proof of Concept Study to Assess the Effect of Single Oral Doses of BGG492 on the Photoparoxysmal EEG Response in Patients With Photosensitive Epilepsy Completed NCT00784212 Phase 2 BGG492;BGG492;Placebo
8 Assessment of Marketed AEDs in the Human Photosensitivity Proof of Concept Trial Completed NCT00894010 Phase 2 carbamazepine 400mg;levetiracetam 1000mg
9 Assessment of Staccato® Alprazolam on the EEG Photoparoxysmal Response in Patients With Epilepsy Completed NCT02351115 Phase 2 Staccato® Alprazolam, 0.5 mg;Staccato® Alprazolam, 1 mg;Staccato® Alprazolam, 2 mg;Staccato® Placebo (a);Staccato® Placebo (b)
10 A Placebo-controlled, Single-blind, Multi-center Study to Explore the Photoparoxysmal Response in Photosensitive Epileptic Subjects After One Single Oral Dose of Brivaracetam in Capsules. Completed NCT00401648 Phase 2 Brivaracetam
11 A Multicenter, Double-Blind, Randomized, Cross-Over Study Evaluating Pharmacodynamic Activity of E2730 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03603639 Phase 2 Placebo;E2730
12 A Multicenter, Double-Blind, Randomized, Crossover, Single-Dose Study With An Open-Label Treatment Period Evaluating Pharmacodynamic Activity of E2082 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03686033 Phase 2 Placebo;E2082
13 Efficacy of New Lenses in Abolishing Photoparoxysmal Responses in Paediatric Patients With Photosensitive Epilepsy (PSE) Recruiting NCT04076410

Search NIH Clinical Center for Photosensitive Epilepsy

Genetic Tests for Photosensitive Epilepsy

Anatomical Context for Photosensitive Epilepsy

MalaCards organs/tissues related to Photosensitive Epilepsy:

40
Cortex, Eye, Cerebellum, Retina, Ovary, Temporal Lobe, Occipital Lobe

Publications for Photosensitive Epilepsy

Articles related to Photosensitive Epilepsy:

(show top 50) (show all 283)
# Title Authors PMID Year
1
Sunflower syndrome: a poorly understood photosensitive epilepsy. 61
33135153 2021
2
Reduction of photoparoxysmal response from patients with drug-resistant photosensitive epilepsy by using Z1 filters. 61
33541802 2021
3
Photosensitive Self-Induced Seizures Since Childhood. 61
31995469 2021
4
Ictal EEG in sunflower syndrome: Provoked or unprovoked seizures? 61
33070054 2020
5
Rapidity of CNS Effect on Photoparoxysmal Response for Brivaracetam vs. Levetiracetam: A Randomized, Double-blind, Crossover Trial in Photosensitive Epilepsy Patients. 61
32949370 2020
6
Light-emitting-diode and Grass PS 33 xenon lamp photic stimulators are equivalent in the assessment of photosensitivity: Clinical and research implications. 61
32505867 2020
7
Photosensitive Epilepsy Syndromes Mimicking Motor Tics. 61
33015234 2020
8
Characterizing Sunflower syndrome: a clinical series. 61
32554362 2020
9
Concern of Photosensitive Seizures Evoked by 3D Video Displays or Virtual Reality Headsets in Children: Current Perspective. 61
32104130 2020
10
Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF. 61
33062354 2020
11
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. 61
31862249 2019
12
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype. 61
31563812 2019
13
Photosensitive epilepsy and photosensitivity of patients with possible epilepsy in Chinese Han race: A prospective multicenter study. 61
31526678 2019
14
Suppression of the photoparoxysmal response in photosensitive epilepsy with cenobamate (YKP3089). 61
31292226 2019
15
Dynamic origin of spike and wave discharges in the brain. 61
31022569 2019
16
Stroboscopic light effects during electronic dance music festivals and photosensitive epilepsy: a cohort study and case report. 61
31186244 2019
17
Photosensitive epilepsy: Robust clinical efficacy of a selective GABA potentiator. 61
30877186 2019
18
Clinical advances in photosensitive epilepsy. 61
30076791 2019
19
Defective cortex glia plasma membrane structure underlies light-induced epilepsy in cpes mutants. 61
30185559 2018
20
Diagnostic test accuracy of a novel smartphone application for the assessment of attention deficits in delirium in older hospitalised patients: a prospective cohort study protocol. 61
30223771 2018
21
Clinical and electrographic features of sunflower syndrome. 61
29555355 2018
22
Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report. 61
29642155 2018
23
Chromaticity separation and the alpha response. 61
29157999 2018
24
Visually stressful striped patterns alter human visual cortical functional connectivity. 61
28758271 2017
25
Visual discomfort and flicker. 61
28709920 2017
26
Photosensitivity and epilepsy: Current concepts and perspectives-A narrative review. 61
28532712 2017
27
Gamma oscillations and photosensitive epilepsy. 61
28486114 2017
28
Multi-modal imaging and photosensitive epilepsy: a link between resting brain rhythms and seizure genesis. 61
28375460 2017
29
Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks. 61
28334965 2017
30
Photosensitivity in generalized epilepsies. 61
28215998 2017
31
Altered visual contrast gain control is sensitive for idiopathic generalized epilepsies. 61
28056389 2017
32
Altered recovery from inhibitory repetitive transcranial magnetic stimulation (rTMS) in subjects with photosensitive epilepsy. 61
27407061 2016
33
Single dose efficacy evaluation of two partial benzodiazepine receptor agonists in photosensitive epilepsy patients: A placebo-controlled pilot study. 61
26921854 2016
34
Parallel scheme for real-time detection of photosensitive seizures. 61
26829706 2016
35
Non-invasive brain mapping in epilepsy: Applications from magnetoencephalography. 61
26642968 2016
36
Photosensitivity in a patient with C9orf72 repeat expansion. 61
26735706 2016
37
Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy. 61
25542253 2015
38
Photosensitivity and CHD2 Variants. 61
26933602 2015
39
Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. 61
26088892 2015
40
Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study. 61
25459971 2015
41
[A study of characteristics of the pathological activity of brain in patients with photosensitive epilepsy exposed to light stimulation]. 61
26841547 2015
42
Dose-dependent suppression of human photoparoxysmal response with the competitive AMPA/kainate receptor antagonist BGG492: Clear PK/PD relationship. 61
25963722 2015
43
CHD2 variants are a risk factor for photosensitivity in epilepsy. 61
25783594 2015
44
Brivaracetam: review of its pharmacology and potential use as adjunctive therapy in patients with partial onset seizures. 61
26543353 2015
45
Chromatic and high-frequency cVEP-based BCI paradigm. 61
26736655 2015
46
Comment from Dorothée G.A. Kasteleijn-Nolst Trenité, Edouard Hirsch, Ronald C. Reed, Bassel Abou-Khalil, and Bernd Schmidt on: how predictive are photosensitive epilepsy models as proof of principle trials for epilepsy? 61
25201046 2014
47
Evidence for increased visual gamma responses in photosensitive epilepsy. 61
24893831 2014
48
Do children with cerebral palsy benefit from computerized working memory training? Study protocol for a randomized controlled trial. 61
24998242 2014
49
How predictive are photosensitive epilepsy models as proof of principle trials for epilepsy? 61
24745323 2014
50
Evaluation of JNJ-26489112 in patients with photosensitive epilepsy: a placebo-controlled, exploratory study. 61
24560845 2014

Variations for Photosensitive Epilepsy

Expression for Photosensitive Epilepsy

Search GEO for disease gene expression data for Photosensitive Epilepsy.

Pathways for Photosensitive Epilepsy

GO Terms for Photosensitive Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 TRPC4 SV2A STXBP1 SCN1A PCDH19 NEDD4L
2 postsynapse GO:0098794 9.58 STXBP1 GABRG2 GABRA1
3 chloride channel complex GO:0034707 9.33 GABRR2 GABRG2 GABRA1
4 axon initial segment GO:0043194 9.32 SCN1A KCNQ2
5 node of Ranvier GO:0033268 9.26 SCN1A KCNQ2
6 GABA-A receptor complex GO:1902711 9.13 GABRR2 GABRG2 GABRA1
7 GABA-ergic synapse GO:0098982 8.92 SV2A GABRR2 GABRG2 GABRA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 TRPC4 SV2A SCN1A KCNQ2 KCNA7
2 chloride transmembrane transport GO:1902476 9.7 GABRR2 GABRG2 GABRA1
3 ion transport GO:0006811 9.7 TRPC4 SCN1A KCNQ2 KCNA7 GABRR2 GABRG2
4 regulation of ion transmembrane transport GO:0034765 9.67 SCN1A NEDD4L KCNQ2 KCNA7
5 chloride transport GO:0006821 9.65 GABRR2 GABRG2 GABRA1
6 chemical synaptic transmission GO:0007268 9.65 SV2A KCNQ2 GABRR2 GABRG2 GABRA1
7 nervous system process GO:0050877 9.61 GABRR2 GABRG2 GABRA1
8 regulation of postsynaptic membrane potential GO:0060078 9.58 GABRR2 GABRG2 GABRA1
9 synaptic transmission, GABAergic GO:0051932 9.54 GABRG2 GABRA1
10 synaptic vesicle priming GO:0016082 9.51 SV2A STXBP1
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.5 GABRR2 GABRG2 GABRA1
12 inhibitory synapse assembly GO:1904862 9.49 GABRG2 GABRA1
13 cellular response to histamine GO:0071420 9.46 GABRG2 GABRA1
14 ion transmembrane transport GO:0034220 9.43 SCN1A NEDD4L KCNQ2 GABRR2 GABRG2 GABRA1
15 regulation of membrane potential GO:0042391 9.02 SCN1A NEDD4L GABRR2 GABRG2 GABRA1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.65 SCN1A KCNQ2 KCNA7
2 neurotransmitter receptor activity GO:0030594 9.61 GABRR2 GABRG2 GABRA1
3 chloride channel activity GO:0005254 9.5 GABRR2 GABRG2 GABRA1
4 GABA-gated chloride ion channel activity GO:0022851 9.46 GABRG2 GABRA1
5 extracellular ligand-gated ion channel activity GO:0005230 9.43 GABRR2 GABRG2 GABRA1
6 benzodiazepine receptor activity GO:0008503 9.4 GABRG2 GABRA1
7 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.37 GABRG2 GABRA1
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.33 GABRR2 GABRG2 GABRA1
9 ion channel activity GO:0005216 9.17 TRPC4 SCN1A KCNQ2 KCNA7 GABRR2 GABRG2
10 GABA-A receptor activity GO:0004890 9.13 GABRR2 GABRG2 GABRA1

Sources for Photosensitive Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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