What Is SCN2A? скачать в хорошем качестве

What Is SCN2A?

Donate to help find a cure for SCN2A https://fundraising.epilepsyfoundatio... SCN2A day is on 24 February. My first baby, Mabel, has a truncating (sometimes called stop codon or nonsense) SCN2A mutation. To help raise awareness I’m sharing everything I’ve learned about this genetic disorder. It causes DEE and ASD, as well as other neurological and even non neurological disorders. She has hypotonia, developmental delays, and started having infantile spasms that developed into tonic seizures. There are different phenotypes, with two broad categories that individuals with this genetic disorder fall into: gain of function or loss of function. These categories help to give some idea of what to expect in the future. SCN2A does not currently have a cure. But there are theories on a cure for some of the genetic variants. Donating to the SCN2A foundation will help to that cure become a reality. In Australia the first step is clinical trials, which are in the works. Any support is greatly appreciated. Even if it’s just dropping a question below, liking or sharing this video. Thank you for your interest in SCN2A! Follow me on Instagram @atdfamily   / atdfamily   ----- Instagram images:   / scn2aaustralia     / familiescn2afoundation   Vector images: all-free-download.com freedesignfile ------ More Information on SCN2A http://www2.csudh.edu/nsturm/CHEMXL15... https://www.scn2a.org/scn2a.html https://scn2aaustralia.org/palmer-202... https://www.livebinders.com/play/play... https://www.scn2a.org/pdf/SCN2A%20Bro...    • What are SCN2A-related disorders? (subtitl...