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familial temporal lobe epilepsy 3 (FMTLE) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial temporal lobe epilepsy 3

MONDO:0012705

Also known as:FMTLEfamilial mesial temporal lobe epilepsyETL3

Overview

GeneticsAutosomal dominant

ResearchLimited published research (5 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 very common findings: Deja vu aura; and common findings: Focal impaired awareness seizure and Bilateral tonic-clonic seizure with focal onset.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset

Explore clinical features

Prognosis

Phenotype severity distribution: 1 very common feature, 2 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 familial temporal lobe epilepsy 3.

5 publications have been identified in PubMed for familial temporal lobe epilepsy 3. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Review / Meta-Analysis (20%).

Recent Publications

Ni J (2025). [PMID: 40461170](https://pubmed.ncbi.nlm.nih.gov/40461170/). *J Med Genet*. [Review / Meta-Analysis]
Wang C (2025). [PMID: 41177904](https://pubmed.ncbi.nlm.nih.gov/41177904/). *Acta Epileptol*. [Case Report / Case Series]
Wang C (2024). [PMID: 39029408](https://pubmed.ncbi.nlm.nih.gov/39029408/). *Seizure*. [Case Report / Case Series]
Zou Y (2024). [PMID: 39545066](https://pubmed.ncbi.nlm.nih.gov/39545066/). *Front Pharmacol*. [Basic Science / Preclinical]
Vangoor VR (2024). [PMID: 39509000](https://pubmed.ncbi.nlm.nih.gov/39509000/). *Acta Neuropathol*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611630

GARD

Genetic and Rare Diseases Info Center

GARD:18279

Questions for Your Care Team

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familial temporal lobe epilepsy 3

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team