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familial temporal lobe epilepsy 5 (ETL5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial temporal lobe epilepsy 5

MONDO:0013741

Also known as:ETL5epilepsy, familial temporal lobe, type 5familial temporal lobe epilepsy type 5

Overview

A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.

GeneticsAutosomal recessive, Autosomal dominant · CPA6 (chr 8)

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 common findings: Focal aware seizure; and sometimes findings: Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG with spike-wave complexes, and Intellectual disability and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal aware seizure

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.

CPA6 encodes carboxypeptidase A6 (437 aa). May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. Highest expression in Prostate (5.0 TPM) and Vagina (3.6 TPM).

Familial temporal lobe epilepsy 5 is associated with mutations in the CPA6 gene on chromosome 8.

CPA6 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 2.5.

Diagnosis

Genetic testing for CPA6 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 familial temporal lobe epilepsy 5.

1 publication has been identified in PubMed for familial temporal lobe epilepsy 5. Research spans Case Report / Case Series (100%).

Recent Publications

Makhmetov S (2025). [PMID: 39834405](https://pubmed.ncbi.nlm.nih.gov/39834405/). *Heliyon*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614417

GARD

Genetic and Rare Diseases Info Center

GARD:18280

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial temporal lobe epilepsy 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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