The Loulou Foundation, a private foundation dedicated to the development of therapeutics for the neurodevelopmental condition CDKL5 Deficiency Disorder (CDD), announced today that the first patient has been enrolled in the three-year observational study with CDD patients, the Clinical Assessment of NeuroDevelopmental measures In CDD (CANDID) study.
Patients with psychogenic non-epileptic seizures (PNES) report greater frequency of childhood trauma than patients with epilepsy. This effect appears to hold across all trauma types, with no strong evidence emerging for a particular trauma type that is more prevalent in PNES.
Genetics
In this new effort, the researchers sought to learn if the variant responsible for febrile epilepsy had arisen in multiple people over time or if it could be traced back to just one person.
Our results reveal that several ASMs (e.g. topiramate, oxcarbazepine, benzodiazepines) are prescribed “off-label” in distinct scenarios of young children with epilepsy. In addition, recent scientific guidelines were not always adopted by several survey respondents, suggesting a potential knowledge gap.
Featuring the work of CURE Epilepsy grantee Dr. John Swann. Our goal was to determine whether animals with a history of epileptic spasms have learning and memory deficits.
This report may be used as an illustrative tool for teaching epilepsy syndromes and as a practical and comprehensive aid for the classification of epilepsy individuals' syndromes.
Featuring the work of CURE Epilepsy Scientific Advisory Council member Dr. Vicky Whittemore and CURE Epilepsy grantee Dr. Kevin Wang.
We discuss the important elements that need to be considered for the proteomics, lipidomics and metabolomics methodologies, providing a rationale for the parameters that should be documented.
Children and adolescents with Dravet syndrome with walking difficulties commonly experience impairments in functional mobility and greater restrictions in daily life activities, a study suggests.
Genetics
Among data drawn from four unrelated MAE patients were seizure phenotypes (including EEG patterns) and whole-exome sequences (drawn also from the parents). Four different de novo SLC6A1 variants were found in the four patients, and for two of these, machine learning predicted destabilized forms of GAT1.
