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 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epilepsy, familial focal, with variable foci 2

MONDO:0014924

Also known as:FFEVF2NPRL2 epilepsy, familial focal, with variable fociepilepsy, familial focal, with variable foci 2; FFEVF2

Overview

Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene.

GeneticsAutosomal dominant · NPRL2 (chr 3)

OnsetCHILDHOOD

ResearchLimited published research (2 articles)

Clinical Presentation

Features include common findings: Focal cortical dysplasia. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Seizure

Age of onset: childhood.

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.

NPRL2 encodes NPR2 like, GATOR1 complex subunit (380 aa). Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. Highest expression in Brain Cerebellum (68.2 TPM) and Brain Cerebellar Hemisphere (65.3 TPM).

Epilepsy, familial focal, with variable foci 2 is associated with mutations in the NPRL2 gene on chromosome 3.

NPRL2 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for NPRL2 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 2.

2 publications have been identified in PubMed for epilepsy, familial focal, with variable foci 2. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhu H (2025). [PMID: 40804712](https://pubmed.ncbi.nlm.nih.gov/40804712/). *BMC Neurol*. [Basic Science / Preclinical]
Wang Y (2024). [PMID: 38974383](https://pubmed.ncbi.nlm.nih.gov/38974383/). *Front Genet*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 5:18 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617116

GARD

Genetic and Rare Diseases Info Center

GARD:18203

Questions for Your Care Team

→Should I pursue genetic testing for NPRL2, 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 2

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