Genetics
Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novosequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies.
Presurgical testing for drug resistant epilepsy is influenced by U.S. geographic region and other center characteristics. These findings have potential implications for comparing outcomes between U.S. epilepsy centers and may inject disparities in access to surgical treatment.
Epilepsy Awareness Month, new research, upcoming events, the New York City Marathon, and more in this CURE Epilepsy Update.
Contributors to the work include numerous CURE Epilepsy advisors, grantees, and staff. The aim of the CDEs is to improve the standardization of experimental designs across a range of epilepsy research-related methods.
"If we can figure out what brain changes make people have functional seizures, we can begin to look at how we can change that back," said first author Wesley Kerr, M.D., Ph.D., a neurologist and epileptologist at University of Michigan Health.
The University of Toronto's Xilin Liu is working with microelectronics and artificial intelligence to make this emerging technology both safer and smarter.
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.
