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SCN2A Simplified
Disease burden in genetic epilepsies – five things to know
Genetic epilepsies and developmental and epileptic encephalopathies (DEEs) significant impact the quality of life of patients.
Podcast
Transition
For children with complex needs like developmental epileptic encephalopathies (DEEs) transition to adult care can be challenging.
SCN2A Simplified
All our knowledge begins with the antisenses
Up to date summary of antisense oligonucleotides (ASOs) and their role in the treatment of genetic epilepsies.
Podcast
Living With Epilepsy
Torie Robinson’s lived experience makes her a powerful advocate for improving care for those with epilepsy.
SCN2A Simplified
Parent-reported sleep profile of children with early-life epilepsies
Sleep problems are very common in children with early-life epilepsy.
SCN2A Simplified
Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies
In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.
SCN2A Simplified
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.
SCN2A Simplified
Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies
Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.
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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