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ORPHA:98819

Familial temporal lobe epilepsy

low confidenceDisorder

Publications

34,260

Trials

49

Interventional, condition-specific

Researchers

1,467

Distinct authors in sample

Gene link

NALCN, SUCO

Limited

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic characterized by mostly benign simple or complex partial with autonomic or psychic auras. occur infrequently, are of short duration and are usually well controlled with medication. Development and cognition are normal.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

epilepsy of temporal lobe · epilepsy, familial temporal lobe · familial temporal lobe epilepsy syndrome · temporal lobe epilepsy

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Limited — NALCN, SUCO

  2. LiteraturePresent

    34,260 matched papers (18,003 in last 10 years) Source

  3. Phenotype characterisedPresent

    47 HPO annotations (e.g. Bilateral tonic-clonic seizure with focal onset; Febrile seizure (within the age range of 3 months to 6 years); Focal impaired awareness seizure) Source

  4. Animal modelPresent

    14 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    49 matched on ClinicalTrials.gov (21 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?

Possibly — only limited evidence so far for NALCN, SUCO.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

47

Associated phenotypes · MONDO:0005115

  • Bilateral tonic-clonic seizure with focal onset
  • Febrile seizure (within the age range of 3 months to 6 years)
  • Focal impaired awareness seizure
  • Focal aware seizure
  • Febrile status epilepticus

Showing 5 of 47 — open Monarch for the full list.

Animal models (Monarch / Alliance)

14

Model associations linked to this Mondo ID

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)

24 associated chemicals · 166 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 3,4-Dichloro-N-methyl-N-(2-(1-pyrrolidinyl)-cyclohexyl)-benzeneacetamide, (trans)-Isomer · therapeutic
  • bacoside A · therapeutic
  • Carbamazepine · therapeutic
  • Clonazepam · therapeutic
  • Lamotrigine · therapeutic
  • Levetiracetam · therapeutic
  • Medroxyprogesterone Acetate · therapeutic
  • Phenobarbital · therapeutic
  • Phenytoin · therapeutic
  • Plant Extracts · therapeutic
  • Primidone · therapeutic
  • Topiramate · therapeutic

Pathways: Oxidative phosphorylation; Metabolic pathways; EGFR tyrosine kinase inhibitor resistance; Ras signaling pathway; Rap1 signaling pathway; Calcium signaling pathway; cGMP-PKG signaling pathway; cAMP signaling pathway

MyDisease.info · MONDO:0005115

Literature

Is anyone studying this?

34,260

34,260 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.

34,260 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).

18,003 in the last 10 years · low confidence

Phrase hits: 32,623 · MeSH hits: 100

Open Europe PMC search

Who's working on it?

1,467

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
    Liu Y9 papers · 2026

    Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, China.

    Papers in Europe PMC
  2. 02
    Li Y8 papers · 2026

    Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  3. 03
    Chen J7 papers · 2026

    Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, China.

    Papers in Europe PMC
  4. 04
    Chen Z7 papers · 2026

    Department of Neurology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

    Papers in Europe PMC
  5. 05
    Zhang J6 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Beijing, China.

    Papers in Europe PMC
  6. 06
    Zhang H5 papers · 2026

    Department of Neurology, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, China.

    Papers in Europe PMC
  7. 07
    Amlerova J4 papers · 2026

    Department of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic(2). Electronic address: jana.amler@gmail.com.

    Papers in Europe PMC
  8. 08
    Bernasconi A4 papers · 2026
    Papers in Europe PMC
  9. 09
    Bernasconi N4 papers · 2026
    Papers in Europe PMC
  10. 10
    Bernhardt BC4 papers · 2026

    Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital, McGill University, Montréal, QC, H3A 2B4, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

49

interventional trials for this specific condition

49 interventional trials matched this specific condition name; 21 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

49 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.1th percentile).

low confidence · 97.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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

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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · 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 (9)

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 Familial temporal lobe epilepsy — 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.

("Familial temporal lobe epilepsy" OR "epilepsy of temporal lobe" OR "epilepsy of the temporal lobe" OR "epilepsy, familial temporal lobe" OR "familial temporal lobe epilepsy syndrome" OR "temporal lobe epilepsy") OR (MESH:"Epilepsy, Temporal Lobe") OR ("NALCN" OR "NALCN syndrome" OR "NALCN-related" OR "SUCO" OR "SUCO syndrome" OR "SUCO-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epilepsy, Temporal Lobe

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

"Familial temporal lobe epilepsy" OR "epilepsy of temporal lobe" OR "epilepsy of the temporal lobe" OR "epilepsy, familial temporal lobe" OR "familial temporal lobe epilepsy syndrome" OR "temporal lobe epilepsy" OR "Epilepsy, Temporal Lobe"

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

Study-type breakdown: 49 interventional · 24 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (34260) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:26:33.535Z