Summaries of current research in easy to read language.
Genetic epilepsies and developmental and epileptic encephalopathies (DEEs) significant impact the quality of life of patients.
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 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.
This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.