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

epilepsy, familial focal, with variable foci 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial focal, with variable foci 3

MONDO:0014925

Also known as:FFEVF3NPRL3 epilepsy, familial focal, with variable fociepilepsy, familial focal, with variable foci 3; FFEVF3

Overview

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene.

GeneticsAutosomal dominant · NPRL3 (chr 16)

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 common findings: Focal cortical dysplasia type IIa; and sometimes findings: Focal cortical dysplasia. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Seizure

Explore clinical features

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.

NPRL3 encodes NPR3 like, GATOR1 complex subunit (569 aa). As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. Highest expression in Ovary (54.0 TPM) and Testis (52.7 TPM).

Epilepsy, familial focal, with variable foci 3 is associated with mutations in the NPRL3 gene on chromosome 16.

NPRL3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for NPRL3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 common feature.

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 epilepsy, familial focal, with variable foci 3.

2 publications have been identified in PubMed for epilepsy, familial focal, with variable foci 3. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Thormeyer V (2026). [PMID: 41260400](https://pubmed.ncbi.nlm.nih.gov/41260400/). *Neuropediatrics*. [Case Report / Case Series]
Nabavi Nouri M (2024). [PMID: 39062615](https://pubmed.ncbi.nlm.nih.gov/39062615/). *Genes*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617118

GARD

Genetic and Rare Diseases Info Center

GARD:18204

Questions for Your Care Team

→Should I pursue genetic testing for NPRL3, 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

epilepsy, familial focal, with variable foci 3

Overview

Clinical Presentation

Explore clinical features

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