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

Rare Disease

epilepsy syndrome

MONDO:0015650

Also known as:epileptic syndromesyndromic epilepsy

Find Clinical TrialsTrials

Overview

A syndrome that has a characteristic cluster of clinical features and/or lectroencephalographic (EEG) findings that reflect underlying epileptic activity. It is often associated with a range of other health issues, including cognitive impairment, intellectual disability, physical gross motor and fine motor delays, speech and language deficits, and impacts to other bodily functions and may be supported by specific etiological findings—such as structural, genetic, metabolic, immune, or infectious causes or have an unknown etiology.

Clinical Trials18 registered · 8 recruiting

Diagnosis

Biomarker and diagnostic research for epilepsy syndrome 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.

18 clinical trials registered, 8 recruiting. Interventions under study include other interventions, medical devices, drug therapy, and procedural interventions. Pipeline includes 1 PHASE3, 2 PHASE2, 1 EARLY_PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT03478852](https://clinicaltrials.gov/study/NCT03478852)

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:166463

GARD

Genetic and Rare Diseases Info Center

GARD:20083

Questions for Your Care Team

→Are any of the 18 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Research Type	Count	% of Total
Research summaries	67	26%
Disease patterns and progression	50	20%
Patient case studies	45	18%
Clinical study results	35	14%
Laboratory research	30	12%
Testing and diagnosis research	11	4%
New treatment approaches	9	4%
Other research	6	2%

epilepsy syndrome

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications