SCN2A Insights

Listen to SCN2A Insights each month for the latest on SCN2A and genetic epilepsy

Listen to SCN2A Insights to keep up to date with the latest research in SCN2A, genetic epilepsy and rare genetic disorders. By interviewing leading researchers and others working in the field, you will hear directly from them about their research and be better informed.

Hosted by Kris Pierce, and David Cunnington, parents of Will, who has SCN2A.

Podcasts

Transition

For children with complex needs like developmental epileptic encephalopathies (DEEs) transition to adult care can be challenging.

Living With Epilepsy

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

Quality of Life Measures

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

Ciitizen

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.

Sleep in Autism Spectrum Disorder

Children, adolescents and adults with autism can have significant sleep problems. Waking at night and early morning waking are some of the most common.

Simons Searchlight

Simons Searchlight aims to better understand genetic neurodevelopmental conditions, specifically those associated with autism spectrum disorder (ASD).

SFARI

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.

Angel Aid

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

Lennox-Gastaut syndrome (LGS) is an epilepsy syndrome that can develop over time from childhood seizures that remain uncontrolled by treatments.

Supporting Children in Uncertain Times

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

Strategies for Carers in Uncertain Times

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

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.

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?

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?

Antisense Oligonucleotides (ASOs)

Antisense oligonucleotides (ASOs) are being developed as treatments for rare genetic disorders such as SCN2A. What are they and how do they work?

Demystifying Genetic Testing

Genetic testing is complex. To decipher some of the terminolgy and help explain the process we talked to Dr Emma Palmer, Clinical Geneticist.

Sleep in Children with Developmental Disabilities

Children with developmental disabilities can have touble with sleep. Assoc Prof Margot Davey discusses what can be done to improve sleep in these children.