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CHRNA2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CHRNA2 gene

The CHRNA2 gene provides instructions for creating a subunit of a neuronal nicotinic acetylcholine receptor, which is vital for chemical signaling between nerve cells.

Normal Function

The CHRNA2 gene provides instructions for making one part (subunit) of a larger protein complex called a neuronal nicotinic acetylcholine receptor (nAChR). Each nAChR complex is made up of a combination of five subunits, usually two alpha (α) and three beta (β) subunits. Many different combinations are possible, and the characteristics of each nAChR complex depend on its specific subunits. The CHRNA2 gene is responsible for producing a subunit known as α2. Little is known about the specific function of nAChR proteins made with this subunit.

In the brain, nAChR proteins are widely distributed and play an important role in chemical signaling between nerve cells (neurons). The nAChR acts as a channel, allowing charged atoms (ions), including calcium, sodium, and potassium, to cross the cell membrane. These channels open when they attach to a chemical messenger (neurotransmitter) called acetylcholine. The channels also open in response to nicotine, the addictive substance in tobacco.

Communication between neurons depends on neurotransmitters, which are released from one neuron and taken up by neighboring neurons. The release and uptake of these chemicals are tightly regulated to ensure that signals are passed efficiently and accurately between neurons. Researchers believe that nAChR channels play an important role in controlling the normal release and uptake of neurotransmitters.

A wide range of brain functions depend on nAChR channels, including sleep and arousal, fatigue, anxiety, attention, pain perception, and memory. The channels are also active before birth, which suggests that they are involved in early brain development.

Health Conditions Related to Genetic Changes

Autosomal dominant sleep-related hypermotor epilepsy

MedlinePlus Genetics provides information about autosomal dominant sleep-related hypermotor epilepsy.

Other Names for This Gene

  • Acetylcholine receptor, neuronal nicotonic, alpha-2 subunit
  • ACHA2_HUMAN
  • Cholinergic receptor, neuronal nicotinic, alpha polypeptide 2
  • cholinergic receptor, nicotinic alpha 2
  • cholinergic receptor, nicotinic, alpha 2
  • cholinergic receptor, nicotinic, alpha 2 (neuronal)
  • cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)

Frequently Asked Questions

Diagnosis requires overnight video-electroencephalography (video-EEG) or video-polysomnography (vPSG) to capture the nocturnal motor episodes and distinguish them from non-epileptic sleep disorders. Because interictal (between-seizure) EEGs are frequently normal in frontal lobe epilepsies, genetic testing using a targeted multigene epilepsy panel or whole-exome sequencing is essential to confirm a pathogenic CHRNA2 variant.
Seizures associated with CHRNA2 mutations generally respond well to sodium channel-blocking antiseizure medications. Carbamazepine or oxcarbazepine is considered first-line therapy and often provides complete seizure freedom at low to moderate doses. If these are not tolerated or achieve incomplete control, alternatives such as topiramate, lacosamide, or levetiracetam are commonly prescribed.
Pathogenic variants in the CHRNA2 gene are associated with sleep-related hypermotor epilepsy (SHE), previously referred to as nocturnal frontal lobe epilepsy (NFLE). The α2 subunit forms nicotinic acetylcholine receptor channels in cerebral cortical networks. Mutations that alter channel gating or sensitivity can lead to cortical hyperexcitability, precipitating sudden, frequent seizures during sleep transitions.
Unlike parasomnias, CHRNA2-related epileptic events are brief (usually lasting between 10 seconds and 2 minutes), highly stereotypic (the exact same movement pattern occurs every time), and occur in clusters multiple times per night, primarily during non-REM sleep. Patients may display abrupt sitting up, dystonic posturing, bicycling leg movements, or sudden vocalizations, followed by a rapid return to full wakefulness without the prolonged confusion typical of night terrors.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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