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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 the CACNA1A gene was identified in a female, age 8, with hypotonia, delayed brain myelination, and developmental delays (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).
A change in this gene was 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!