Podcast
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.
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Resources
Webinar
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.
Podcast
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.
Podcast
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?
Podcast
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?
News
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.
News
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.
Podcast
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?
Podcast
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?
Webinar
Developing Treatment for SCN2A
Prof Steven Petrou and Dr Kiran Reddy discuss the RC-222 program developing an ASO treatment for gain-of-function SCN2A epilepsies.
Podcast
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.
Podcast
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.
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The Genetic Epilepsy Team Australia - GETA 2021 conference registrations have gone live. You can attend virtually or face to face in Melbourne - we hope will join us.
Genetic Epilepsy Family Conference 2021 run by GETA
www.eventbrite.com.au
In 2021 GETA will hold a hybrid event - with those who can and want to attend can do so face to face at the The Florey Institute.
Watch this video by Prof. Steve Petrou from The Florey Institute of Neuroscience and Mental Health to learn more about Loss of Function presentations in SCN2A and what this means for potential treatments. ![]()
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