COVID-19
Prof Ingrid Scheffer discusses COVID-19 and issues relevant to children and adults with genetic epilepsy / DEEs and their families.
Global Genes
Global Genes connects, empowers and inspires the rare disease community and fosters collaboration between groups from around the world.
Family Stories
Having a child with SCN2A can have a significant impact on the whole family. Three parents tell their stories about having a child with SCN2A.
Clinical Features of SCN2A-Related Disorders
Mutations of the SCN2A gene can result in a range of different clinical syndromes. Understanding these clinical presentations can help to guide treatment.
Exploring Families’ Needs
What are the needs of families when their children with genetic epilepsy become unwell? Kris Pierce discusses the outcome from a recent roundtable.
Loss of Function & Autism
What is the relationship between loss of function SCN2A mutations and autism? What can SCN2A mutations teach us about mechanisms underpinning autism?
Models in Rare Diseases
Why are models needed to assess and develop treatments in rare diseases? What types of models are there? When are different models used?
Gene editing with CRISPR
What is CRISPR? How does it work? Is it ready for use in humans? Hear about CRISPR in this episode of the 'Health Report' podcast.
Hot topics in autism research in 2019
This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.
Genetic Epilepsy Clinics
What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care?
- 1
- 2