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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 EIF2AK2 gene was identified in a 13-year-old boy with a history of seizures, involuntary muscle contractions (dystonia), irregular and involuntary jerky movements on one side of the body (hemiballismus), difficulty walking (gait disturbance), and brain imaging abnormalities (read full description).
May 06, 2021
Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2
The EIF2AK2 gene encodes a serine/threonine kinase. Once the kinase is activated, it phosphorylates the alpha subunit of eukaryotic protein synthesis initiation factor-2, which leads to the inhibition of protein synthesis (Kuhen et al., 1996).
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