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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.
Changes in this gene were identified in a female, age 5 with seizures (status epilepticus), developmental regression, and eye abnormalities (strabismus, esotropia) (read full description).
Mar 04, 2020
DEAD-box helicase 1
DEAD box proteins are considered to be RNA helicases. The DDBX1 gene encodes a protein that can affect translation initiation, splicing, and spliceosome and ribosome assembly (Godbout and Squire, 1993).
Changes in this gene were identified in a UDN participant. Research is underway to see if these changes are causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!