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.