Mutations of the SCN2A gene can result in a range of different clinical syndromes. Understanding these clinical presentations can help to guide treatment.
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 is CRISPR? How does it work? Is it ready for use in humans? Hear about CRISPR in this episode of the 'Health Report' podcast.
This year has been a big year in autism research, with advances in understanding the biology of autisum using models such as organiods.
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?
Prof Steven Petrou and Dr Kiran Reddy discuss the RC-222 program developing an ASO treatment for gain-of-function SCN2A epilepsies.
Speakers: Prof. Steven Petrou, Director of the Florey and RogCon, Chief Scientific Officer, and Dr. Kiran Reddy, CEO of Praxis Precision Medicines. At the 2018 American Epilepsy Society meeting, Prof…