The global coronavirus pandemic has brought significant challenges particularly for those with children with developmental and epileptic encephalopathies.
Prof Ingrid Scheffer discusses COVID-19 and issues relevant to children and adults with genetic epilepsy / DEEs and their families.
Global Genes connects, empowers and inspires the rare disease community and fosters collaboration between groups from around the world.
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.
What are the needs of families when their children with genetic epilepsy become unwell? Kris Pierce discusses the outcome from a recent roundtable.
What is the relationship between loss of function SCN2A mutations and autism? What can SCN2A mutations teach us about mechanisms underpinning autism?
Why are models needed to assess and develop treatments in rare diseases? What types of models are there? When are different models used?
What should you expect when you attend a genetic epilepsy clinic? What happens when you need to transition from paediatric to adult care?
Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work?
Genetic testing is complex. To decipher some of the terminolgy and help explain the process we talked to Dr Emma Palmer, Clinical Geneticist.