The CHRNA4 gene codes for the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (nACHR). nAChR function as channels for neurotransmitters, and play a vital role in functions such as sleep and arousal, fatigue, anxiety, attention, pain perception, and memory.
Mutations in this gene have been found to cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and idiopathic partial epilepsy. It is also believed that they may play a key role in the development of the idiopathic generalized epilepsy syndrome (IGE) and juvenile myoclonic epilepsy (JME).