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.
All our knowledge begins with the antisenses
Up to date summary of antisense oligonucleotides (ASOs) and their role in the treatment of genetic epilepsies.
Parent-reported sleep profile of children with early-life epilepsies
Sleep problems are very common in children with early-life epilepsy.
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.
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.
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.
SCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors
This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.
Generation and basic characterization of a gene-trap knockout mouse model of SCN2A
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.
ASO for SCN2A gain of function mutation in mice
Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.
Impact of genetic epilepsy on parents
Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.