ArticlePediatric investigation2022
Characteristics of infantile convulsions and choreoathetosis syndrome caused by
Article in Pediatric investigation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Genotype-Phenotype Correlations and Their Implications for Personalized Genetic Counseling in 103 Patients WithHuman mutation · 2026Article
- Paroxysmal Dyskinesias in Paediatric Age: A Systematic Review.Journal of clinical medicine · 2025Review
- Article
- Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.Epilepsia open · 2024Article
- Characteristics of infantile convulsions and choreoathetosis syndrome caused byPediatric investigation · 2022Article
- Associated movement disorder as a clue for the diagnosis of paroxysmal kinesigenic dyskinesia in a child with focal epilepsy.Journal of neurosciences in rural practiceArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Importance: Infantile convulsions and choreoathetosis (ICCA) is a rare neurological disorder. Many affected patients are either misdiagnosed or prescribed multiple antiepileptic drugs. Objective: To explore therapeutic drug treatments and dosages for ICCA in children. Methods: Detailed clinical features (e.g., past medical history and family history), genetic features, and treatment outcomes were collected from the records of six patients with ICCA. Results: Mean age at paroxysmal kinesigenic dyskinesia (PKD) onset was 8 years 8 months (range, 3-12 years); the clinical presentation was characterized by daily short paroxysmal episodes of dystonia/dyskinesia. All patients had infantile convulsions at less than 1 year of age, and the mean onset age was 5.5 months (range, 4-7 months). Two patients had a family history of ICCA, PKD, or benign familial infantile epilepsy. Whole exome sequencing identified the c.649-650insC mutation in Interpretation:
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.