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visual epilepsy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

visual epilepsy

MONDO:0001386

Also known as:epilepsy, visual

Overview

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.'

Newborn Screening42 states (Mucopolysaccharidosis Type I)

Diagnosis

Visual epilepsy is included in newborn screening programs (Mucopolysaccharidosis Type I) in 42 states.

Biomarker and diagnostic research for visual epilepsy 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 visual epilepsy.

14 publications have been identified in PubMed for visual epilepsy. Research spans Case Report / Case Series (43%), Other (14%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	6	43%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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visual epilepsy

Overview

Diagnosis

Research Landscape

Medical References

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Questions for Your Care Team

Questions for Your Care Team

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