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A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
37 publications have been identified in PubMed for hyperekplexia. Research spans Case Report / Case Series (62%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (11%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 23 | 62% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:30 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
7 |
19% |
Research summaries | 4 | 11% |
Other research | 1 | 3% |
Clinical study results | 1 | 3% |
New treatment approaches | 1 | 3% |
Borghese CM (2026). [PMID: 42244611](https://pubmed.ncbi.nlm.nih.gov/42244611/). *bioRxiv*. [Basic Science / Preclinical]
Giuntini M (2026). [PMID: 41194486](https://pubmed.ncbi.nlm.nih.gov/41194486/). *Am J Med Genet A*. [Case Report / Case Series]
Sarmiento-Jiménez J (2026). [PMID: 41977215](https://pubmed.ncbi.nlm.nih.gov/41977215/). *Int J Mol Sci*. [Basic Science / Preclinical]
Sarigecili E (2026). [PMID: 42013565](https://pubmed.ncbi.nlm.nih.gov/42013565/). *Pediatr Neurol*. [Review / Meta-Analysis]
Ray S (2026). [PMID: 42210711](https://pubmed.ncbi.nlm.nih.gov/42210711/). *Mov Disord Clin Pract*. [Review / Meta-Analysis]
Cavusoglu D (2026). [PMID: 42093250](https://pubmed.ncbi.nlm.nih.gov/42093250/). *Pediatr Int*. [Case Report / Case Series]
Luque-Llano M (2026). [PMID: 41781893](https://pubmed.ncbi.nlm.nih.gov/41781893/). *BMC Neurol*. [Case Report / Case Series]
Lin SZ (2026). [PMID: 41578547](https://pubmed.ncbi.nlm.nih.gov/41578547/). *Medicine*. [Case Report / Case Series]
Hayashi Y (2025). [PMID: 41183950](https://pubmed.ncbi.nlm.nih.gov/41183950/). *The journal of medical investigation : JMI*. [Review / Meta-Analysis]
Sarmiento-Jiménez J (2025). [PMID: 40725001](https://pubmed.ncbi.nlm.nih.gov/40725001/). *International journal of molecular sciences*. [Case Report / Case Series]