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familial temporal lobe epilepsy 4 (ETL4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial temporal lobe epilepsy 4

MONDO:0012706

Also known as:ETL4familial temporal lobe epilepsy type 4EPOLM

Overview

A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.

GeneticsAutosomal dominant

ResearchLimited published research (1 article)

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: Focal impaired awareness seizure, Migraine with aura, Focal sensory seizure with visual features, and Auditory hallucination and 1 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Focal impaired awareness seizure, Migraine with aura, Focal sensory seizure with visual features

Explore clinical 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 4.

1 publication has been identified in PubMed for familial temporal lobe epilepsy 4. Research spans Case Report / Case Series (100%).

Recent Publications

Tonkin JY (2026). [PMID: 41477988](https://pubmed.ncbi.nlm.nih.gov/41477988/). *Pediatric neurology*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611631

GARD

Genetic and Rare Diseases Info Center

GARD:15523

Questions for Your Care Team

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familial temporal lobe epilepsy 4

Overview

Clinical Presentation

Explore clinical features

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team