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On this page, you will find information about genetic changes that were 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.
Changes in the CHKB gene were identified in a female, age 28 with Landau-Kleffner syndrome and progressive lower limb weakness (read full description).
Aug 25, 2021
choline kinase beta
The CHKB gene codes for a protein that has a key role in phospholipid creation (Aoyama et al. 2004).
Changes in this gene were identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!