The program is for people with symptoms of neurotransmitter disorders, such as Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

CURE Epilepsy would like to pass on some information that some families might find helpful.

PTC Therapeutics and Invitae have partnered to provide PTC Pinpoint Neurotransmitter Disorders Program, a no-cost genetic testing, post-test genetic counseling, and family screening program for individuals of all ages who present with symptoms of neurotransmitter disorders, such as Aromatic L-amino Acid Decarboxylase (AADC) deficiency.

One of the most common symptoms of AADC deficiency is involuntary eye movements called oculogyric crisis. These are moments when a child’s eyes suddenly roll upward or to the side involuntarily. In addition, backward and side bending of the neck, extension of the tongue, and jaw spasms occur with oculogyric crisis. These crises can last anywhere from a few seconds to hours and can happen several times a day or several times a week. When this happens, it can look like your child is having a seizure.

Talk to your doctor about testing with PTC Pinpoint if your child is experiencing symptoms of AADC deficiency, like oculogyric crisis.

Genetic counseling is available after testing to help you understand your child’s test results. Family testing is available as well for all blood relatives of individuals who undergo testing and are found to have a mutation or change in the gene, all at no cost.

To learn more about PTC Pinpoint Neurotransmitter Disorders Program, please visit [link removed].

If you have any questions about the program, please email [email protected] (mailto:[email protected]) .
CURE Epilepsy is not affiliated with, nor has any financial investment in the PTC Pinpoint Neurotransmitter Disorders Program, PTC Therapeutics or Invitae. CURE Epilepsy is sharing information about this external opportunity, and is not sponsoring nor is directly involved in this project. Should you choose to reach out to the PTC Pinpoint Neurotransmitter Disorders Program and/or become involved with this project, you would do so independently from CURE Epilepsy.
Our mission is to find a cure for epilepsy, by promoting and funding patient-focused research. CURE Epilepsy is a non-profit 501(c)(3) tax-exempt organization. Our tax identification number is 36-4253176.
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