Photosensitive epilepsy
disease diseaseOn this page
Also known as photoparoxysmal responsePSE
Summary
Photosensitive epilepsy (MONDO:0015643) is a disease and 11 clinical trials. Top therapeutic interventions include carbamazepine, fenfluramine hydrochloride, and lactulose. A subtype of inherited reflex epilepsy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
- Clinical trials: 11
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | photosensitive epilepsy |
| Mondo ID | MONDO:0015643 |
| OMIM | 132100 |
| Orphanet | 166409 |
| DOID | DOID:0060281 |
| ICD-11 | 946957931 |
| SNOMED CT | 95208000 |
| UMLS | C0393720 |
| MedGen | 98285 |
| GARD | 0005648 |
| Is cancer (heuristic) | no |
Also known as: photoparoxysmal response · PSE
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › epilepsy › reflex epilepsy › inherited reflex epilepsy › photosensitive epilepsy
Related subtypes (1): hot water reflex epilepsy
Subtypes (4): photoparoxysmal response 1, photoparoxysmal response 2, photoparoxysmal response 3, Sunflower syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 11.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 6 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
| PHASE3 | 1 |
| PHASE1 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00609245 | PHASE4 | COMPLETED | Effect of Valproic Acid Concentration on Photic Response |
| NCT03580707 | PHASE2/PHASE3 | COMPLETED | Does BRV Have Faster Onset Time & Greater Effect Than LEV in Epilepsy Pts Using PPR Pharmacodynamic Efficacy Endpoint |
| NCT03790137 | PHASE3 | COMPLETED | Treatment of Sunflower Syndrome With ZX008 (Fenfluramine Hydrochloride) in Children and Young Adults (Ages 4-25). |
| NCT00579384 | PHASE2 | COMPLETED | A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram (EEG) Response in Patients With Photosensitive Epilepsy |
| NCT00784212 | PHASE2 | COMPLETED | Effect of BGG492 on EEG in Patients With Photosensitive Epilepsy |
| NCT00894010 | PHASE2 | COMPLETED | Photosensitivity Proof of Concept Trial |
| NCT03239691 | PHASE2 | COMPLETED | A Study to Evaluate the Effect of ACT-709478 in Photosensitive Epilepsy Patients |
| NCT03603639 | PHASE2 | TERMINATED | A Study to Evaluate the Pharmacodynamic Activity of E2730 in Adult Participants With Photosensitive Epilepsy |
| NCT03686033 | PHASE2 | TERMINATED | A Study to Evaluate the Pharmacodynamic Activity of E2082 in Adult Participants With Photosensitive Epilepsy |
| NCT06525649 | PHASE1 | COMPLETED | A Double Blind, Randomized, Cross-over Study Examining the Suppression of the Photoparoxysmal EEG Response With NPT 2042 |
| NCT01283152 | Not specified | COMPLETED | Efficacy Study of Polyethylene Glycol 3350-electrolyte Solution (GoLYTELY®) Versus Lactulose in Patients With Hepatic Encephalopathy. |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CARBAMAZEPINE | 4 | 1 |
| FENFLURAMINE HYDROCHLORIDE | 4 | 1 |
| LACTULOSE | 4 | 1 |
| VALPROIC ACID | 4 | 1 |
| POLYETHYLENE GLYCOL | 3 | 1 |
| JNJ-26489112 | 2 | 1 |
| SELURAMPANEL | 2 | 1 |