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 8 with a neurological condition (read full description).
May 13, 2016
Calcium voltage-gated channel subunit alpha1 A
The CACNA1A gene codes for the alpha-1 subunit of the CaV2.1 calcium channel. This subunit helps to form the pore of the channel where ions flow (Kordasiewicz et al., 2006).
Changes in the CACNA1A gene have been found in individuals with episodic ataxia, familial hemiplegic migraines, and spinocerebellar ataxia.
A change in the CACNA1A gene was also identified in a UDN participant and other patients with similar symptoms (Luo et al, 2017). Families affected by this condition have come together to form a Facebook group and nonprofit organization, the CACNA1A Foundation.
Interested in learning more about this gene or sharing what you know? Contact us!