CHRNA2 encodes cholinergic receptor nicotinic alpha 2 subunit (529 aa). Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. Highest expression in Prostate (13.2 TPM) and Brain Cortex (3.5 TPM).

Autosomal dominant nocturnal frontal lobe epilepsy 4 is associated with mutations in the CHRNA2 gene on chromosome 8.

CHRNA2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 7.5.

Genetic testing for CHRNA2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for autosomal dominant nocturnal frontal lobe epilepsy 4.

5 publications have been identified in PubMed for autosomal dominant nocturnal frontal lobe epilepsy 4. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

• Bisulli F (2025). [PMID: 40085429](https://pubmed.ncbi.nlm.nih.gov/40085429/). *Epilepsia*. [Review / Meta-Analysis]

• Makhmetov S (2025). [PMID: 39834405](https://pubmed.ncbi.nlm.nih.gov/39834405/). *Heliyon*. [Case Report / Case Series]

• Shi GA (2024). [PMID: 38840676](https://pubmed.ncbi.nlm.nih.gov/38840676/). *Translational pediatrics*. [Basic Science / Preclinical]

• Mulkerrin G (2024). [PMID: 38983576](https://pubmed.ncbi.nlm.nih.gov/38983576/). *Epilepsy & behavior reports*. [Case Report / Case Series]

• Yang Y (2024). [PMID: 38966089](https://pubmed.ncbi.nlm.nih.gov/38966089/). *Frontiers in neurology*. [Review / Meta-Analysis]