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familial temporal lobe epilepsy 8 (ETL8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial temporal lobe epilepsy 8

MONDO:0014650

Also known as:ETL8epilepsy, familial temporal lobe, type 8familial temporal lobe epilepsy type 8

Overview

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13.

GeneticsAutosomal dominant · GAL (chr 11)

OnsetADULT

ResearchLimited published research (4 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 always present findings: Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, and Deja vu aura; and common findings: Focal aware cognitive seizure with forced thinking, Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena, and Focal aware sensory seizure with auditory features.

Organ System	Phenotype Count	Example Features
Brain and nerves	5

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.

GAL encodes galanin and GMAP prepropeptide (123 aa). Endocrine hormone of the central and peripheral nervous systems that binds and activates the G protein-coupled receptors GALR1, GALR2, and GALR3. Highest expression in Pituitary (578.3 TPM) and Brain Hypothalamus (24.3 TPM).

Familial temporal lobe epilepsy 8 is associated with mutations in the GAL gene on chromosome 11.

The GAL protein participates in B3GALT4 transfers Gal to gangliosides pathway.

GAL is classified as a druggable target (Druggable Genome category) with score 1.6.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 3 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 8.

4 publications have been identified in PubMed for familial temporal lobe epilepsy 8. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Demir M (2025). [PMID: 40237932](https://pubmed.ncbi.nlm.nih.gov/40237932/). *Inflammation*. [Basic Science / Preclinical]
Kang Y (2024). [PMID: 38946780](https://pubmed.ncbi.nlm.nih.gov/38946780/). *Front Aging Neurosci*. [Review / Meta-Analysis]
Chen Y (2024). [PMID: 40217319](https://pubmed.ncbi.nlm.nih.gov/40217319/). *Acta Epileptol*. [Case Report / Case Series]
Zedde M (2024). [PMID: 38994983](https://pubmed.ncbi.nlm.nih.gov/38994983/). *Cells*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616461

GARD

Genetic and Rare Diseases Info Center

GARD:16116

Questions for Your Care Team

→Should I pursue genetic testing for GAL, 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?

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familial temporal lobe epilepsy 8

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

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