RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:101046

Epilepsy with auditory features

low 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

5,331

Trials

0

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — LGI1, MICAL1

  2. LiteraturePresent

    5,331 matched papers (4,198 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. EEG with focal epileptiform discharges; Aphasia; Interictal epileptiform activity) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

19

Associated phenotypes · MONDO:0010898

  • EEG with focal epileptiform discharges
  • Aphasia
  • Interictal epileptiform activity
  • Focal aware seizure
  • Visual hallucination

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,331

5,331 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,331 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,198 in the last 10 years · low confidence

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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (6)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Epilepsy with auditory features — check Associations / patient organisations on that page.

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") OR (MESH:"Autosomal Dominant Lateral Temporal Lobe Epilepsy") OR ("LGI1" OR "LGI1 syndrome" OR "LGI1-related" OR "MICAL1" OR "MICAL1 syndrome" OR "MICAL1-related")

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (5331) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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