SNAP25 function has not been fully characterized.

Congenital myasthenic syndrome 18 is associated with mutations in the SNAP25 gene on chromosome 20.

Genetic testing for SNAP25 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 18 has been reported in the published literature.

Phenotype severity distribution: 13 always present features.

No clinical trials have been registered for congenital myasthenic syndrome 18.

17 publications have been identified in PubMed for congenital myasthenic syndrome 18. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (18%), and Case Report / Case Series (18%).

Recent Publications

• Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clin Genet*. [Basic Science / Preclinical]

• Wang T (2026). [PMID: 41547082](https://pubmed.ncbi.nlm.nih.gov/41547082/). *Pediatr Neurol*. [Clinical Trial Publication]

• Akiyama M (2025). [PMID: 39913008](https://pubmed.ncbi.nlm.nih.gov/39913008/). *CEN Case Rep*. [Case Report / Case Series]

• Ohno K (2025). [PMID: 40533459](https://pubmed.ncbi.nlm.nih.gov/40533459/). *J Hum Genet*. [Review / Meta-Analysis]

• Della Marina A (2025). [PMID: 39948634](https://pubmed.ncbi.nlm.nih.gov/39948634/). *Acta Neuropathol Commun*. [Diagnostic / Biomarker]

• Yeung TMH (2025). [PMID: 41362569](https://pubmed.ncbi.nlm.nih.gov/41362569/). *Cureus*. [Case Report / Case Series]

• Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• Prodromos CC (2025). [PMID: 41278139](https://pubmed.ncbi.nlm.nih.gov/41278139/). *Am J Stem Cells*. [Gene Therapy / Novel Therapeutics]

• Takhman M (2025). [PMID: 41382066](https://pubmed.ncbi.nlm.nih.gov/41382066/). *BMC Neurol*. [Review / Meta-Analysis]

• Krenn M (2025). [PMID: 41004697](https://pubmed.ncbi.nlm.nih.gov/41004697/). *Neurology*. [Diagnostic / Biomarker]