Mar 29, 2019
When she was an infant, the participant was noticed to have low muscle tone (generalized hypotonia) and global developmental delay. Over time she began to develop involuntary movements (chorea), which progressed to seizures, first infantile spasms then generalized tonic seizures. Currently, these generalized tonic seizures occur every day, up to 60 times per day. These seizures have not been successfully controlled with typical treatments.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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