Conference 2021
Genetic Information
Dr Emma Palmer discusses how to decipher your genetic reports – what should be included and what does it mean?
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ASO
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Conference 2021
Support for SCN2A and genetic epilepsy families
Suzanne is passionate about supporting families with a rare epilepsy diagnosis. She presents her research and the resources she has developed.
Conference 2021
Understanding clinical variability for variants in the same gene
Prof Lynette Sadleir discusses how variants in genes such as SCN2A can lead to different clinical presentations.
Conference 2021
Praxis SCN2A Programs: An Update
Michael Oldham and Devra Densmore discuss Praxis’ rare epilepsy pipeline, specifically for SCN2A including precision based approaches.
Conference 2021
Loss of function gene mutations in SCN2A: Implications and opportunities for therapeutic intervention
Professor Steven Petrou explains how mutations in the SCN2A gene can lead to loss of function, and how treatments could increase function.
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.
Webinar – Working towards SCN2A treatment
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
Podcast
Developing Treatments for SCN2A
We talk with Dr Kiran Reddy about the plans for the RC-222 treatment program with the goal of developing a treatment for SCN2A gain-of-function epilepsies.
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Kudos to @IDreamofGenes for this tremendous work covering 6 genes.
SYNGAP1
STXBP1
KCNQ2
FOXG1
SCN2A
SCN8A
Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness
https://www.medrxiv.org/content/10.1101/2023.03.02.23286645v1