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Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
No clinical trials have been registered for infantile epileptic-dyskinetic encephalopathy.
12 publications have been identified in PubMed for infantile epileptic-dyskinetic encephalopathy. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Review / Meta-Analysis (8%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 8 | 67% |
Laboratory research | 2 |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
17%
Research summaries | 1 | 8% |
Disease patterns and progression | 1 | 8% |
Drackley A (2026). [PMID: 41340537](https://pubmed.ncbi.nlm.nih.gov/41340537/). *Am J Med Genet A*. [Case Report / Case Series]
Bhandary R (2026). [PMID: 40828338](https://pubmed.ncbi.nlm.nih.gov/40828338/). *Eur Arch Paediatr Dent*. [Case Report / Case Series]
Kollia E (2025). [PMID: 40068485](https://pubmed.ncbi.nlm.nih.gov/40068485/). *Eur J Paediatr Neurol*. [Epidemiology / Natural History]
Fons C (2025). [PMID: 40930967](https://pubmed.ncbi.nlm.nih.gov/40930967/). *J Med Genet*. [Case Report / Case Series]
Saxena M (2025). [PMID: 41190407](https://pubmed.ncbi.nlm.nih.gov/41190407/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Berecki G (2025). [PMID: 38939966](https://pubmed.ncbi.nlm.nih.gov/38939966/). *Brain*. [Basic Science / Preclinical]
Poon JYY (2024). [PMID: 38818821](https://pubmed.ncbi.nlm.nih.gov/38818821/). *Clin Dysmorphol*. [Case Report / Case Series]
Córdoba NM (2024). [PMID: 38512072](https://pubmed.ncbi.nlm.nih.gov/38512072/). *Epileptic Disord*. [Case Report / Case Series]
Spoto G (2024). [PMID: 38921008](https://pubmed.ncbi.nlm.nih.gov/38921008/). *Curr Issues Mol Biol*. [Review / Meta-Analysis]
Jaramillo-Martinez V (2024). [PMID: 39442909](https://pubmed.ncbi.nlm.nih.gov/39442909/). *J Mol Biol*. [Basic Science / Preclinical]