SCN8A is a rare disorder, caused by a genetic variation in the gene SCN8A. Early stages of diagnosis and understanding have revealed a broad spectrum of neurodevelopmental disorders ranging from mild behavior or movement disorders to severe developmental and cognitive delays. Although epilepsy is often a significant aspect of this disorder, with the majority of patients developing seizures early in life, further understanding has revealed that not all individuals with an SCN8A diagnosis will experience seizures. Meet some our SCN8A Warriors who live with SCN8A.
Our team at The Cute Syndrome Foundation is working hard to bring SCN8A into the light, to fund the dedicated and talented researchers working to better understand it, and to support the families who are affected by this disorder. But, we can't do it alone: We need your help—your donations, your volunteer time, and your social media support in order to continue to make big things happen for this small, but growing, community.
Thanks to our partnerships with Aduje o Rafa, the American Epilepsy Society, and the Epilepsy Foundation of Metropolitan New York, among others, we have helped to fund a series of SCN8A research projects including: Dr. John Schreiber's Access to SCN8A Expert Care Pilot Project, Dr. Ted Cummin's SCN8A Zebrafish research, and Dr. Michael Hammer's SCN8A Registry. With our Scientific Advisory Committee we produce an SCN8A Clinician Reference Guide, hold an annual SCN8A Clinician, Researcher, and Family Gathering, and convene SCN8A Research Meetings—all with an eye toward improving the lives of those with SCN8A mutations.
In the past The Cute Syndrome Foundation has funded PCDH19 research. Read more about the PCDH19 research have funded.
Where did the name "The Cute Syndrome" come from? Check out this blog post...
Our team at The Cute Syndrome Foundation is working hard to bring SCN8A into the light, to fund the dedicated and talented researchers working to better understand it, and to support the families who are affected by this disorder. But, we can't do it alone: We need your help—your donations, your volunteer time, and your social media support in order to continue to make big things happen for this small, but growing, community.
Thanks to our partnerships with Aduje o Rafa, the American Epilepsy Society, and the Epilepsy Foundation of Metropolitan New York, among others, we have helped to fund a series of SCN8A research projects including: Dr. John Schreiber's Access to SCN8A Expert Care Pilot Project, Dr. Ted Cummin's SCN8A Zebrafish research, and Dr. Michael Hammer's SCN8A Registry. With our Scientific Advisory Committee we produce an SCN8A Clinician Reference Guide, hold an annual SCN8A Clinician, Researcher, and Family Gathering, and convene SCN8A Research Meetings—all with an eye toward improving the lives of those with SCN8A mutations.
In the past The Cute Syndrome Foundation has funded PCDH19 research. Read more about the PCDH19 research have funded.
Where did the name "The Cute Syndrome" come from? Check out this blog post...
Latest Updates
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Praxis announces positive topline results from the EMBOLD study“I can’t help but smile today as I fully absorb the press release from Praxis Precision Medicines about the positive phase 2 EMBOLD study topline results for the drug relutrigine. These remarkable findings show significant improvements in seizure reduction and severity, along with encouraging signs in clinical assessments, including improvements in disruptive behavior, communication, and alertness. For families without any approved treatment options, this drug brings profound hope and could potentially change the course of disease management. I’m eager to see the next steps unfold as we continue to work together as a community for a better tomorrow.”
- Kacie Craig, Executive Director, The Cute Syndrome Foundation |
SCN8A Warriors
Make sure to check out our SCN8A Warriors page to see some of the cute faces behind The Cute Syndrome Foundation!
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Shedding Light on SCN8A: 8th Annual International SCN8A Awareness Day
February 9, 2024, marked an important occasion for the global community, particularly for those whose lives have been touched by SCN8A, a rare disorder that often operates in the shadows. International SCN8A Awareness Day, observed under this year’s theme #IfYouOnlyKnew, served as a poignant reminder of the challenges faced by individuals affected by this condition, which impacts less than 1,000 people worldwide... |
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