Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

developmental and epileptic encephalopathy, 37 (DEE37) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 37

MONDO:0014859

Also known as:DEE37EIEE37FRRS1L early infantile epileptic encephalopathy

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.

GeneticsAutosomal recessive · FRRS1L (chr 9)

OnsetCHILDHOOD

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Absent speech, Choreoathetosis, Global developmental delay, and Chorea and others; and common findings: Focal hemiclonic seizure, Reduced movement (hypokinesia), Loss of previously acquired skills (developmental regression), and Muscle stiffness (rigidity) and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	16	Bilateral tonic-clonic seizure, Brain shrinkage (cerebral atrophy), Focal hemiclonic seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FRRS1L encodes ferric chelate reductase 1 like (293 aa). Important modulator of glutamate signaling pathway Highest expression in Brain Cerebellar Hemisphere (53.7 TPM) and Brain Cerebellum (43.9 TPM).

Developmental and epileptic encephalopathy, 37 is associated with mutations in the FRRS1L gene on chromosome 9.

FRRS1L is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FRRS1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 37 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 6 common features.

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 developmental and epileptic encephalopathy, 37.

74 publications have been identified in PubMed for developmental and epileptic encephalopathy, 37. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (20%), and Clinical Trial Publication (20%).

Research Type	Count	% of Total
Disease patterns and progression	29	41%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616981

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

Kisho

developmental and epileptic encephalopathy, 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

developmental and epileptic encephalopathy, 37

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications