Dravet Syndrome Foundation (DSF) was founded by a group of parents with Dravet syndrome or SCN1A-related epilepsies. DSF has been supporting researchers and their researches by providing grants. Additionally, DSF makes effort to increase awareness of these catastrophic conditions and to provide support to affected individuals and families.
We and Dr. Michael F. Hammer is researching the mechanism by which Dravet syndrome causes various phenotypes with the support to M.H of DSF.
SCN8A.net is organized by Dr. Michael F. Hammer at the University of Arizona. He discovered first SCN8A mutation which cause refractory seizures and severe mental retardation in 2012. The first case, Shay, is Dr. Hammer’s daughter. SCN8A. net helps patient’s families, Doctors and researchers by providing variants and phenotype information.
Dr. Ishii was one of postdocs of Dr. Hammer at the University of Arizona, and learning about genetics and analysis.
Rational Intervention for KCNQ2/3 Epileptic Encephalopathy is organized by Dr. Edward C. Cooper at the Baylor College of Medicine. The RIKEE Project focus on KCNQ2 variants. KCNQ2 is encoding a subunit of a voltage-gated potassium channel that is expressed in the brain. Mutations in KCNQ2 cause Benign (Familial) Neonatal Epilepsy and Epileptic Encephalopathy.
We cooperate with Dr. Cooper on the pathology of KCNQ2-related epilepsy.