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ORPHA:99701

Mesial temporal lobe epilepsy with hippocampal sclerosis

high confidenceDisorder

Also known as: HS-MTLE · Hippocampal sclerosis-related mesial temporal lobe epilepsy · MTLE-HS

Publications

752

82.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,369

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Mesial temporal lobe with hippocampal sclerosis is a rare syndrome defined by originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile , hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without . Typical consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. are followed by postictal dysfunction. Initially, are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with behavioral changes and memory deficits.

Orphanet entry

Cross-references

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

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.”

2/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    752 matched papers (460 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPresent

    1 matched on ClinicalTrials.gov (1 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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?

752

752 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

752 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).

460 in the last 10 years · high confidence · 82.4th percentile (publications denominator)

Phrase hits: 752 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,369

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
    Chaves J12 papers · 2026

    Serviço de Neurologia, Hospital de Santo António, Centro Hospitalar e Universitário do Porto, Largo Prof. Abel Salazar, 4099-003 Porto, Portugal.

    Papers in Europe PMC
  2. 02
    Banerjee J9 papers · 2026

    Centre of Excellence for Epilepsy, AIIMS, New Delhi, India.

    Papers in Europe PMC
  3. 03
    Baykan B9 papers · 2022

    Department of Neurology, İstanbul University İstanbul School of Medicine, İstanbul, Turkey.

    Papers in Europe PMC
  4. 04
    Leal B9 papers · 2026

    UMIB - Instituto de Ciências Biomédicas Abel Salazar [ICBAS], Universidade do Porto, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal; Lab. Imunogenética, DPIM, ICBAS-UPorto, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal. Electronic address: baleal@icbas.up.pt.

    Papers in Europe PMC
  5. 05
    Lopes J9 papers · 2026

    Serviço de Neurofisiologia, Hospital de Santo António, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-003 Porto, Portugal.

    Papers in Europe PMC
  6. 06
    Sharma MC9 papers · 2026

    Department of Pathology, AIIMS, New Delhi, India.

    Papers in Europe PMC
  7. 07
    Tripathi M9 papers · 2026

    Centre of Excellence for Epilepsy, AIIMS, New Delhi, India.

    Papers in Europe PMC
  8. 08
    Zhang J9 papers · 2026

    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  9. 09
    Chandra PS8 papers · 2026

    Centre of Excellence for Epilepsy, AIIMS, New Delhi, India.

    Papers in Europe PMC
  10. 10
    Ramalheira J8 papers · 2024

    Serviço de Neurofisiologia, Hospital de Santo António, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-003 Porto, Portugal.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Mesial temporal lobe epilepsy with hippocampal sclerosis — 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.

"Mesial temporal lobe epilepsy with hippocampal sclerosis" OR "HS-MTLE" OR "Hippocampal sclerosis-related mesial temporal lobe epilepsy" OR "MTLE-HS"

Run this search on Europe PMC

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

"Mesial temporal lobe epilepsy with hippocampal sclerosis" OR "HS-MTLE" OR "Hippocampal sclerosis-related mesial temporal lobe epilepsy" OR "MTLE-HS"

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

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

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

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

Ingested 2026-07-27T06:12:47.548Z