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, 47 (DEE47) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

developmental and epileptic encephalopathy, 47

MONDO:0014949

Also known as:DEE47EIEE47FGF12 early infantile epileptic encephalopathy

Overview

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene.

GeneticsAutosomal dominant · FGF12 (chr 3)

ResearchLimited published research (2 articles)

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: Shrinkage of the cerebellum (cerebellar atrophy), Profound intellectual disability, Multifocal epileptiform discharges, and Loss of previously acquired skills (developmental regression) and others; and common findings: Bilateral tonic-clonic seizure, Hypsarrhythmia, Low muscle tone (hypotonia), and Ataxia and others. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	16

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.

FGF12 encodes fibroblast growth factor 12 (243 aa). Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Highest expression in Brain Frontal Cortex BA9 (32.8 TPM) and Heart Atrial Appendage (25.4 TPM).

Developmental and epileptic encephalopathy, 47 is associated with mutations in the FGF12 gene on chromosome 3.

FGF12 is classified as a druggable target (Clinically Actionable, Druggable Genome, and Growth Factor categories) with score 2.9.

Diagnosis

Genetic testing for FGF12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 12 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, 47.

2 publications have been identified in PubMed for developmental and epileptic encephalopathy, 47. Research spans Case Report / Case Series (100%).

Recent Publications

Pierret C (2025). [PMID: 40488543](https://pubmed.ncbi.nlm.nih.gov/40488543/). *Epilepsia*. [Case Report / Case Series]
Piotrowski J (2025). [PMID: 40897676](https://pubmed.ncbi.nlm.nih.gov/40897676/). *Clin Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617166

GARD

Genetic and Rare Diseases Info Center

GARD:16206

Questions for Your Care Team

→Should I pursue genetic testing for FGF12, and what would the results mean for my family?
→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

developmental and epileptic encephalopathy, 47

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features