In partnership with The Cute Syndrome Foundation, John M. Schreiber, MD from Children's National Hospital is collecting survey data from health care providers. The survey is intended to assess comfort in ordering and interpreting genetic testing and knowledge among medical professionals about SCN8A-related epilepsy, preferred treatments, and SUDEP risk. This research will help direct future education initiatives. Click the button below for access to the survey (Medical Professionals only, please).
There is a also a free informational webinar given by Dr. Schreiber geared towards clinicians that will provide an overview of genetic evaluation in patients with refractory epilepsy with particular attention to SCN8A. This is being held by Global Genes from 1-2 pm EST on Wednesday, October 2. Please click on the following button to register. The password to access the webinar, when available is TCSF2019.
This webinar will provide a brief overview of genetic evaluation in refractory epilepsy and specific examples of how a positive test may influence management. SCN8A-related epilepsy will be discussed in detail, with attention to epilepsy phenotype, diagnostic testing, associated co-morbidities including sudden unexpected death in epilepsy, and treatment.
Our SCN8A Annual Clinician, Researcher, and Family Gathering will be held in conjunction with the American Epilepsy Society Conference on December 6-7, 2019 at the Renaissance Harborplace Hotel in Baltimore Maryland. If you are a Medical Professional who would like to join the meeting or the caregiver of a child with SCN8A, please email Shelley Frappier for information about joining the event.
The 2019 SCN8A Research Roundtable took place in Chapel Hill, North Carolina in July. This event brought together a select group of key SCN8A professionals for an intensive strategic planning meeting. Over a day and a half of meetings, participants focused on the state of SCN8A research, collaborate on grant efforts, and outlined next steps necessary to translate the scientific understanding of SCN8A into improved treatments and outcomes for individuals living with SCN8A. We believe the collaborative work between family advocacy groups, clinicians, researchers, and industry partners in driving research forward is key.