CHRNA1 encodes cholinergic receptor nicotinic alpha 1 subunit (457 aa). Upon acetylcholine binding, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Muscle Skeletal (29.9 TPM) and Pituitary (1.9 TPM).

Congenital myasthenic syndrome 1A is associated with mutations in the CHRNA1 gene on chromosome 2.

The CHRNA1 protein participates in CHRNA9:CHRNA10:AcCho transports Ca2+ from the extracellular region to the cytosol pathway.

CHRNA1 is classified as a druggable target (Cell Surface, Druggable Genome, and Ion Channel categories) with score 2.5.

Genetic testing for CHRNA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 1A has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 3 common features.

No clinical trials have been registered for congenital myasthenic syndrome 1A.

18 publications have been identified in PubMed for congenital myasthenic syndrome 1A. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (17%).

Recent Publications

• Reich C (2026). [PMID: 42113217](https://pubmed.ncbi.nlm.nih.gov/42113217/). *Clin Res Cardiol*. [Review / Meta-Analysis]

• Ivanovic V (2026). [PMID: 41940306](https://pubmed.ncbi.nlm.nih.gov/41940306/). *Front Neurol*. [Case Report / Case Series]

• Mascitelli JR (2026). [PMID: 42055825](https://pubmed.ncbi.nlm.nih.gov/42055825/). *J Neurointerv Surg*. [Review / Meta-Analysis]

• Choe N (2025). [PMID: 40701844](https://pubmed.ncbi.nlm.nih.gov/40701844/). *The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology*. [Basic Science / Preclinical]

• Zylla MM (2025). [PMID: 39115608](https://pubmed.ncbi.nlm.nih.gov/39115608/). *Clinical research in cardiology : official journal of the German Cardiac Society*. [Clinical Trial Publication]

• Werr L (2025). [PMID: 39348606](https://pubmed.ncbi.nlm.nih.gov/39348606/). *Journal of clinical oncology : official journal of the American Society of Clinical Oncology*. [Epidemiology / Natural History]

• Min JH (2025). [PMID: 40878311](https://pubmed.ncbi.nlm.nih.gov/40878311/). *Journal of clinical neurology (Seoul, Korea)*. [Case Report / Case Series]

• Hasan AU (2025). [PMID: 41283336](https://pubmed.ncbi.nlm.nih.gov/41283336/). *Medicines (Basel, Switzerland)*. [Gene Therapy / Novel Therapeutics]

• Ohno K (2025). [PMID: 40533459](https://pubmed.ncbi.nlm.nih.gov/40533459/). *Journal of human genetics*. [Case Report / Case Series]

• Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]