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ORPHA:101046

Epilepsy with auditory features

medium confidenceDisorder

Also known as: ADEAF · ADLTE · ADPEAF · Autosomal dominant epilepsy with auditory features · Autosomal dominant lateral temporal lobe epilepsy · EAF · Partial epilepsy with auditory aura · Partial epilepsy with auditory features

Publications

424

78.4th percentile

Trials

3

Interventional, condition-specific

Researchers

1,180

Distinct authors in sample

Gene link

LGI1, MICAL1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, familial partial disease characterized by focal associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

adolescent/adult onset autosomal dominant epilepsy with auditory features · autosomal dominant epilepsy with auditory features · autosomal dominant lateral temporal lobe epilepsy · autosomal dominant partial/lateral temporal epilepsy with auditory features · partial epilepsy with auditory aura · partial epilepsy with auditory features

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — LGI1, MICAL1

  2. LiteraturePresent

    424 matched papers (196 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (LGI1, MICAL1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

424

424 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

424 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

196 in the last 10 years · medium confidence · 78.4th percentile (publications denominator)

Phrase hits: 424 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,180

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Nobile C23 papers · 2024

    CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

    Papers in Europe PMC
  2. 02
    Michelucci R19 papers · 2024

    Department of Neurosciences, Ospedale Bellaria, Bologna, Italy. Roberto.Michelucci@ausl.bo.it

    Papers in Europe PMC
  3. 03
    Striano P17 papers · 2023

    CNR-Istituto di Neuroscienze, Dipartimento di Scienze Biomediche Sperimentali, Università di Padova, viale G. Colombo 3, 35121 Padova, Italy.

    Papers in Europe PMC
  4. 04
    Striano S14 papers · 2018

    Department of Neurosciences, Reproductive and Odontostomatological Sciences, School of Medicine, Federico II University, Napoli, Italy.

    Papers in Europe PMC
  5. 05
    Baulac S13 papers · 2017

    1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, ICM, F-75013 Paris, France 4 Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France stephanie.baulac@upmc.fr.

    Papers in Europe PMC
  6. 06
    Dazzo E13 papers · 2024

    CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

    Papers in Europe PMC
  7. 07
    Bisulli F11 papers · 2021

    Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy. tinuper@neuro.unibo.it

    Papers in Europe PMC
  8. 08
    Fukata M11 papers · 2025

    Division of Neuropharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan; Graduate Institute for Advanced Studies, SOKENDAI, Okazaki, Aichi 444-8585, Japan. Electronic address: fukata.masaki.h6@f.mail.nagoya-u.ac.jp.

    Papers in Europe PMC
  9. 09
    Fukata Y11 papers · 2025

    Division of Membrane Physiology, Department of Molecular and Cellular Physiology, National Institute for Physiological Sciences, National Institutes of Natural Sciences, Okazaki, Aichi 444-8787, Japan; Division of Molecular and Cellular Pharmacology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan. Electronic address: fukata.yuko.y1@f.mail.nagoya-u.ac.jp.

    Papers in Europe PMC
  10. 10
    Ikeda A11 papers · 2023

    Department of Epilepsy, Movement Disorders and Physiology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Epilepsy with auditory features" OR "ADEAF" OR "ADLTE" OR "ADPEAF" OR "Autosomal dominant epilepsy with auditory features" OR "Autosomal dominant lateral temporal lobe epilepsy" OR "Partial epilepsy with auditory aura" OR "Partial epilepsy with auditory features" OR "adolescent/adult onset autosomal dominant epilepsy with auditory features" OR "autosomal dominant partial/lateral temporal epilepsy with auditory features"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Autosomal Dominant Lateral Temporal Lobe Epilepsy

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Epilepsy with auditory features" OR "ADEAF" OR "ADLTE" OR "ADPEAF" OR "Autosomal dominant epilepsy with auditory features" OR "Autosomal dominant lateral temporal lobe epilepsy" OR "Partial epilepsy with auditory aura" OR "Partial epilepsy with auditory features" OR "adolescent/adult onset autosomal dominant epilepsy with auditory features" OR "autosomal dominant partial/lateral temporal epilepsy with auditory features" OR "LGI1" OR "MICAL1"

Recall-expansion terms: LGI1, MICAL1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EAF

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:14:36.822Z