If any of these participants sound like you or someone you know, please contact us!Contact Us
On this page, you will find information about a genetic change that was identified in a UDN participant.
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 this gene was identified in a female, age 12 with epileptic encephalopathy (read full description).
Jun 26, 2018
gamma-aminobutyric acid type A receptor beta2 subunit
The GABRB2 gene is a member of the GABA-A receptor gene family. Members of this gene family are involved in the neurotransmission of GABA, a major neurotransmitter in the brain (Whiting et al., 1999).
The following change in this gene was identified in a UDN participant:
Interested in learning more about this gene or sharing what you know? Contact us!