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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in the CHRNA2 gene was identified in a 12-year-old female with a history of seizures, brain imaging abnormalities, behavioral features (ADHD, hallucinations, and sleepwalking), mild to moderate bilateral sensorineural hearing loss, and distinctive facial features (read full description).
May 12, 2021
Cholinergic Receptor Nicotinic Alpha 2 Subunit
The CHRNA2 gene codes for an alpha subunit of the neuronal nicotinic cholinergic receptor (nAChR) (Conti et al., 2015)
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!