SCN2A GERMANY
Updated 894 days ago
Foundation, PO Box 82, E. Longmeadow, MA 01028
SCN2A is one of the genes most commonly associated with early-onset epilepsy, and has recently been linked to autism spectrum disorder and developmental delay. SCN2A encodes a neuronal voltage gated sodium channel, NaV1.2 that is primarily found in excitatory neurons throughout the brain. In this webinar, Drs. Kevin Bender and Stephan Sanders will detail recent advances in our understanding of how different mutations in SCN2A contribute to the different forms of epilepsy, including benign infantile seizure and epileptic encephalopathy, and how these mutations contrast with those that contribute to autism. We will further discuss how the distribution of NaV1.2 within neurons develops over the first few years of life, and how these changes affect neuronal function. This development has important implications for understanding these disorders and in designing potential therapies in the future... FamilieSCN2A is an organization created by parents of children diagnosed with rare forms of..
Also known as: FamilieSCN2A, SCN2A, SCN2A Germany e.V.
Associated domains: scn2aresearchfoundation.com