Jul 08, 2019
The participant’s parents first noticed that the participant was not meeting her developmental milestones at 9 months. At 11 months, she started having seizures (infantile spasms). An MRI at 11 months was normal; however, she had an abnormal EEG (hypsarrhythmia) that was consistent with epileptic encephalopathy. Despite medications, her seizures have continued and are poorly controlled.
The participant first smiled at 11 months old and rolled over at 12 months. However, currently, she is not able to speak or walk. She was not able to tolerate a ketogenic diet and currently feeds through her G tube.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.