Genetic epilepsies and developmental and epileptic encephalopathies (DEEs) significant impact the quality of life of patients.
Up to date summary of antisense oligonucleotides (ASOs) and their role in the treatment of genetic epilepsies.
Sleep problems are very common in children with early-life epilepsy.
In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.
This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.
Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.
Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.
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
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