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familial temporal lobe epilepsy 7 (ETL7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial temporal lobe epilepsy 7

MONDO:0014639

Also known as:ETL7epilepsy, familial temporal lobe, type 7familial temporal lobe epilepsy type 7

Overview

A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22.

GeneticsAutosomal dominant

ResearchLimited published research (2 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: Focal sensory seizure with auditory features.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Focal sensory seizure with auditory features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for autosomal dominant epilepsy with auditory features (ADEAF) have been published by the International League Against Epilepsy (ILAE) .

Suggestive Findings

ADEAF should be suspected in individuals with the following clinical, neuroimaging, and EEG findings and family history. Clinical findings. A history consistent with focal epilepsy typically in adolescence/adulthood (age of onset 10-30 years) with no prior history of seizures or developmental delays. Seizure semiology is consistent with focal aware seizures with auditory symptoms and/or receptive aphasia:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for familial temporal lobe epilepsy 7. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for autosomal dominant epilepsy with auditory features (ADEAF) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with autosomal dominant epilepsy with auditory features (ADEAF), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Autosomal Dominant Epilepsy with Auditory Features: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Autosomal Dominant Epilepsy with Auditory Features: Recommended Surveillance

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 7.

2 publications have been identified in PubMed for familial temporal lobe epilepsy 7. Research spans Case Report / Case Series (100%).

Recent Publications

Bonanni P (2024). [PMID: 38654463](https://pubmed.ncbi.nlm.nih.gov/38654463/). *Epilepsia Open*. [Case Report / Case Series]
Chen Y (2024). [PMID: 40217319](https://pubmed.ncbi.nlm.nih.gov/40217319/). *Acta Epileptol*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616436

GARD

Genetic and Rare Diseases Info Center

GARD:16112

Questions for Your Care Team

→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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Clinical Guidance

Autosomal dominant epilepsy with auditory features (ADEAF) is characterized by adolescence/adulthood onset of focal aware seizures with auditory symptoms and/or receptive aphasia in individuals with normal cognitive and neurologic development . Table 2. Autosomal Dominant Epilepsy with Auditory Features: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Epilepsy	100%	Most commonly reported seizure types include:; Focal to bilateral tonic-clonic seizures accompanied by focal aware or focal impaired-awareness seizures, w/auditory symptoms (~88%-92%)
Reflex seizures (in response to sudden noises or a noisy environment) (~8%-13%) Auditory features	~57%-71%	Can be simple (e.g., hearing a monotone sound such as humming or buzzing as in tinnitus) or complex (e.g., hearing voices or music)
Aphasia	~17%-20%	Typically receptive
EEG abnormalities	~ 57%-80%	Focal (temporal) or generalized ADEAF is characterized by focal epilepsy not caused by a previous illness or injury, with auditory symptoms and/or receptive aphasia as prominent ictal manifestations.

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

GeneReviews

Differential Diagnosis

Selected genes associated with focal epilepsy in the differential diagnosis of autosomal dominant epilepsy with auditory features (ADEAF) are listed in . Table 3. Selected Genes of Interest in the Differential Diagnosis of Autosomal Dominant Epilepsy with Auditory Features

Gene(s)	Disorder	Proportion of Disorder Attributed to Pathogenic Variants in Listed Genes	Clinical Features
Localization ofepileptogeniczone	Seizure semiology	Age at onset	Neuroimaging
STX1B	Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE)	19% (persons w/family history of SHE)	—
7% (persons w/negative family history)	Frontal lobe (rarely from extrafrontal areas, e.g., temporal, insular, parietal regions)	Asymmetric tonic/dystonic posturing /or complex hyperkinetic seizures, mostly during sleep	1st 2 decades of life in most persons, typically in adolescence
Manifestations may vary considerably w/in a family. Unknown(DEPDC5)1	Familial mesial temporal lobe epilepsy (FMTLE)	Rare1	Mesial temporal lobe2
Auditory symptoms in 10%	Usually late adolescence or early adulthood	Normal	Interictal epileptiform EEG abnormalities in ~20%
Multiple genes incl:DEPDC5NPRL2NPRL3TSC1TSC2	Familial focal epilepsy w/variable foci (FFEVF) (OMIM PS604364)	Unknown	Epileptogenic zone (frontal, temporal, or occipital) differs among family members.3
Frontal lobe seizures most common.	Auditory symptoms aphasia not described in families w/FPEVF.	Usually middle childhood to early adulthood	Normal

Source: GeneReviews — "Autosomal Dominant Epilepsy with Auditory Features"

System/Concern	Evaluation	Comment
Neurologic	Assessment by neurologist for eval of suspected seizures as indicated	To incl EEG, high-resolution brain MRI, cerebral FDG-PET; depending on seizure semiology, severity, ASMs
Neurocognitive	Assessment by developmental pediatrician /or neuropsychologist	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education
Psychiatric	Assessment by psychiatrist	For any psychiatric comorbidities or complications
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of ADEAF to facilitate medical personal decision making ADEAF = autosomal dominant epilepsy with auditory features; ASM = anti-seizure medication; MOI = mode of inheritance 1.
Autosomal Dominant Epilepsy with Auditory Features: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other
Epilepsy	Standardized treatment w/ASM by epileptologist or experienced neurologist	Most persons are responsive to standard ASMs in most cases monotherapy is effective for complete seizure control.1; Education of parents/caregivers2
Psychiatric issues	Standardized treatment by psychiatrist	—
Family/Community	Ensure appropriate social work involvement to connect families w/local resources support.	Ongoing assessment of need for support ASM = anti-seizure medication Traditionally sodium channel blockers such as carbamazepine have been more frequently used with clear benefit.
Autosomal Dominant Epilepsy with Auditory Features: Recommended Surveillance System/Concern	Evaluation	Frequency
Neurologic	Monitor those w/seizures as clinically indicated.	At each visit Neurocognitive
Psychiatric	Eval by psychiatrist for any psychiatric comorbidities	If applicable
Family/Community	Assess family need for social work support (e.g., other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit

Kisho

familial temporal lobe epilepsy 7

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

familial temporal lobe epilepsy 7

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials