This website provides information on patients with variants in the SCN1Bgene, including clinical data, molecular data, management and research options.
The syndrome caused by variants in the SCN1B gene is a multisystem disorder characterized by seizures, developmental delay, and cardiac conduction abnormalities.
Not all individuals with a variants in the SCN1B gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with variants in the SCN1B gene.
Megan Abbott, MD, University of Colorado, Department of Pediatrics and Neurology, Denver, CO, USA, megan.abbott@childrenscolorado.org
Lori Som, PhD, University of Michigan, Departments of Pharmacology, Neurology, and Molecular & Integrative Physiology, Ann Arbor, MI, USA, lisom@umich.edu.
Kelly Knupp, MD, University of Colorado, Department of Pediatrics and Neurology, Denver, CO, USA, Kelly.knupp@childrenscolorado.org