Transitioning children with complex health needs such as those with SCN2A or other developmental epileptic encephalopathies is challenging.  Dr Danielle Andrade from University of Toronto has been instrumental in producing a number of guides to the transition process and her ongoing research hopes to help further improve the process of transition.

Torie Robinson's lived experience makes her a powerful advocate for improving care for those with epilepsy.

Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.

Ciitizen is partnering with the SCN2A community and rare disease groups to empower patients and families with access to their health data and advance research.

Children, adolescents and adults with autism can have significant sleep problems. Trouble getting to sleep, waking at night and early morning waking are some of the most common. Prof Amanda Richdale, from LaTrobe University talks with us about why sleep problems occur in autism.

Simons Searchlight is an initiative of the Simons Foundation Autism Research Initiative (SFARI) that aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD). To better understand the work and current research of Simons Searchlight we speak to Jennifer Tjernagel, senior project manager.

Launched in 2006, SFARI is a scientific initiative within the Simons Foundation's suite of programs. SFARI’s mission is to improve the understanding, diagnosis and treatment of autism spectrum disorders by funding innovative research of the highest quality and relevance.To better understand the work and current research of SFARI we speak to Dr John Spiro, Deputy Scientific Director of SFARI.

Angel Aid provides relief for mothers of children with rare disorders, helping them learn tools of self-care, and be listened to without judgement.

Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments. It's common for children with genetic epilepsy to develop LGS which can then further exacerbate their symptoms.

The global coronavirus pandemic has brought significant challenges for us all, but particularly for children with developmental and epileptic encephalopathies.

The global coronavirus pandemic has brought significant challenges particularly for those with children with developmental and epileptic encephalopathies.

Want to better understand better how the COVID-19 pandemic may impact children and adults with genetic epilepsy and developmental and epileptic encephalopathies (DEEs)? Listen to these tips and information from Prof Ingrid Scheffer. This bonus episode of SCN2A Insights is produced by Genetic Epilepsy Team Australia for the benefit of those with genetic epilepsy and DEEs and their families.

Global Genes connects, empowers and inspires the rare disease community. To learn more about Global Genes' mission and the support they can give organisations around the world we spoke to Kimberly Haugstad, CEO of Global Genes.

Having a child with SCN2A can have a significant impact on the whole family. To mark International SCN2A Awareness Day on February 24th we interviewed three parents about having a child with SCN2A.

Families can find it challenging dealing with the healthcare system when children with genetic epilepsy and developmental epileptic encephalopathies are unwell. To help identify needs and plan towards improving services, Genetic Epilepsy Team Australia convened a roundtable including families, clinicians and researchers. In this episode Kris Pierce discusses the outcomes of the roundtable and plans for the future.

What is the relationship between loss of function SCN2A mutations and autism? How can studying SCN2A mutations teach us about cellular 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.