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photoparoxysmal response 1 (PPR1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

photoparoxysmal response 1

MONDO:0007559

Also known as:PPR1Photoconvulsive reactionPpr

Overview

GeneticsAutosomal dominant

Clinical Presentation

Features include: EEG with photoparoxysmal response.

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Diagnosis

Biomarker and diagnostic research for photoparoxysmal response 1 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for photoparoxysmal response 1.

112 publications have been identified in PubMed for photoparoxysmal response 1. Kisho has analyzed 75 by research type. Research spans Review / Meta-Analysis (52%), Basic Science / Preclinical (19%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Research summaries	39	52%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:132100

GARD

Genetic and Rare Diseases Info Center

GARD:15065

Questions for Your Care Team

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photoparoxysmal response 1

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications