Caregiver Resources - Recorded Meetings

"The information and education I receive through The International SCN8A Alliance meetings gives me the ability to sit at the table when it comes to my son’s care and advocate for him. I am forever grateful!"

Inheritance and Mosaicism in SCN8A - April 1, 2023

During this session, we hear from Dr. Hammer about how inheritance and mosaicism happen and what we are learning about cases of inherited SCN8A.

Research Update - March 25, 2023

In this update, we discuss some of the genetics behind SCN8A including:

– A genetics 101
– De novo versus inherited mutations
– What the c. and p. mean on genetic reports
– Different types of genetic mutations (missense, splice, nonsense, frameshift, etc.)
– Gain-of-function and loss-of-function

And much more!

International SCN8A Awareness Day Live Event - February 9, 2023

An amazing evert to mark International SCN8A Awareness Day 2023!

Alliance co-founders Michael Hammer, JayEtta Z. Hecker and Gabrielle Conecker were be joined by many special guests including: Cinzia Scarcelli of SCN8A Italia Gaby de Leeuw of SCN8A Nederland Dr. John Schreiber of Children’s National Hospital Vanesa Perez and Aurora Rojo Iriondo of SCN8A España Dietrich Haubenberger of Neurocrine Biosciences Brian Pfister of Praxis Precision Medicines Madeleine Oudin – SCN8A mom and researcher and Interntaional SCN8A Board Member

Community Discussion: Emerging Genetic Treatments for SCN8A - Sept 2022

Check out this conversation about emerging genetic treatments for those living with SCN8A with SCN8A parents/scientists Madeleine Oudin and Chris Burge. In this talk, you’ll hear about antisense oligonucleotide (ASO) treatments, CRISPR and gene therapy. Madeleine and Chris also share about their journey with nLorem to develop an ASO treatment for their daughter, Margot.

Marking Ten Years Since the Discovery of SCN8A - March 2022

A discussion with the core team who made the discovery that SCN8A caused epilepsy in humans, their seminal publication ten years (March 2012) and the incredible progress since then. The discussion includes Miriam Meisler, Krishna Veeramah, Michael Hammer, JayEtta Hecker and Gabi Conecker and was recorded in March 2022

A model of SCN8A, explained

JP Johnson, of Xenon Pharmaceuticals, was kind enough to sit down with the team from the International SCN8A Alliance to talk about SCN8A – the gene itself, how it functions under normal circumstances and how new treatments being developed may impact the gene. A fun and educational way to learn more about SCN8A!

Want to learn more?

If you are a caregiver who is interested in learning more about SCN8A, check out our regular SCN8A Caregiver meetings and join for any that are of interest to you!

Want to support the work we do to help families and find better treatments for those living with SCN8A?

Every donation helps ensure we can continue to empower caregivers to advocate for their children and keep working to find better care, treatments and quality of life for those with SCN8A.