RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:31709

Infantile convulsions and choreoathetosis

low confidenceDisorder

Also known as: ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Publications

2,499

Trials

2

Interventional, condition-specific

Researchers

1,528

Distinct authors in sample

Gene link

PRRT2

Definitive

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

PKD/IC · infantile convulsions and choreoathetosis · paroxysmal kinesigenic dyskinesia and infantile convulsions

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 — PRRT2

  2. LiteraturePresent

    2,499 matched papers (2,313 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

    2 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?

Yes — we know a specific gene responsible (PRRT2).

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?

2,499

2,499 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=5449) is 41.

2,499 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).

2,313 in the last 10 years · low confidence

Phrase hits: 2,499 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,528

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
    Li Z10 papers · 2026

    Department of Human Pathology, Kanazawa University Graduate School of Medical Sciences, 13-1 Takaramachi, Kanazawa, Ishikawa, 920-8640, Japan.

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

    Department of Physiology, School of Basic Medical Sciences, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012 China. Electronic address: Ljingxin@sdu.edu.cn.

    Papers in Europe PMC
  3. 03
    Zhou J9 papers · 2026

    Liver Surgery Department, Liver Cancer Institute, Zhongshan Hospital, Fudan University; Key Laboratory of Carcinogenesis and Cancer Invasion (Fudan University), Ministry of Education, Shanghai 200032, China.

    Papers in Europe PMC
  4. 04
    Zhang Y8 papers · 2026

    Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. yz_fly@csu.edu.cn.

    Papers in Europe PMC
  5. 05
    Chen W7 papers · 2026

    Digestive Diseases Center, the Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen 518107, China.

    Papers in Europe PMC
  6. 06
    Fan J7 papers · 2026

    Liver Surgery Department, Liver Cancer Institute, Zhongshan Hospital, Fudan University; Key Laboratory of Carcinogenesis and Cancer Invasion (Fudan University), Ministry of Education, Shanghai 200032, China.

    Papers in Europe PMC
  7. 07
    Groot Koerkamp B7 papers · 2026

    Department of Surgery, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.

    Papers in Europe PMC
  8. 08
    Li X7 papers · 2026

    Department of Cardiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

    Papers in Europe PMC
  9. 09
    Liu Y7 papers · 2026

    Department of Hepatobiliary Surgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012 China. Electronic address: liuyanfeng@sdu.edu.cn.

    Papers in Europe PMC
  10. 10
    Wang H7 papers · 2026

    Department of Pathology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250012 China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

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

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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.

"Infantile convulsions and choreoathetosis" OR "ICCA syndrome" OR "Paroxysmal kinesigenic dyskinesia and infantile convulsions" OR "PKD/IC"

Run this search on Europe PMC

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

"Infantile convulsions and choreoathetosis" OR "ICCA syndrome" OR "Paroxysmal kinesigenic dyskinesia and infantile convulsions" OR "PKD/IC" OR "PRRT2"

Recall-expansion terms: PRRT2

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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 (2499) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:28:55.760Z