Genetics
Mice with a genetic mutation that’s been observed in patients with epileptic encephalopathy, a severe form of congenital epilepsy, exhibit not only the seizure, developmental and behavioral symptoms of the disorder, but also neural degeneration and inflammation in the brain, University of Illinois Urbana-Champaign researchers found in a new study. The findings highlight the mutation as an important part of the disease’s pathology and a potential target for treatment.
In this month's update, you'll find information on CURE Epilepsy funded grant timelines, the Sergievsky Award, potential DoD funding opportunities, and more.
Genetics
Accelerated long-term forgetting (ALF) has been demonstrated among children but not adults with genetic generalized epilepsy (GGE). We investigated (1) how forgetting patterns of verbal and visuospatial material differ between patients with GGE and healthy controls (HCs) and (2) whether ALF is associated with ictal or interictal epileptic activity.
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The ILAE practical definition of epilepsy has a one seizure possibility to diagnose epilepsy after a first seizure if the recurrence risk is very high. The recurrence risk after a first seizure in brain disorders (first remote seizure) is often high, but varies with etiology, so more specific information is needed for clinical practice.
Disease-causing variants in STXBP1 are amongst the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum and outcomes in STXBP1-related disorders are wide, and clear correlations between variant type and clinical features have not been observed so far.
Building on prior evidence, diagnostic delay in patients with new-onset focal epilepsy has been identified as an important problem for patients with epilepsy. Such delay in diagnosis can lead to delayed treatment and potentially preventable morbidity and mortality including motor vehicle accidents.
People with epilepsy face serious driving restrictions, determined using retrospective studies. To relate seizure characteristics to driving impairment, we aimed to study driving behavior during seizures with a simulator.
