Channelopathies

…programme addresses muscle imaging, channelopathies, myasthenic syndromes, muscular dystrophies and metabolic disorders, alongside clinical-trial methods and treatment challenges in settings with limited resources. Each day includes a 90-minute case-based workshop and discussion with experts, complemented by a library of recorded teaching. 14–16 December, 15:00–19:00 each day; Europe/Paris (CET, UTC+01:00). Entirely online, with up to 20

…an epileptogenic phenotype through channelopathies, which may be acquired through brain insults, such as the T-type Ca2+ channel CaV3.2.Hypoxia-inducible factor 1α (HIF-1α) is quickly activated and can bind to the promoter of CaV3.2, potentially inducing an epileptogenic cascade in penumbra neurons.We used NS20Y cells and prima

The long-term goal of our research is to understand the mechanisms of SUDEP, defined as Sudden, Unexpected, witnessed or unwitnessed, nontraumatic and non-drowning Death in patients with EPilepsy, excluding cases of documented status epilepticus. The majority of SUDEP patients die during sleep. SUDEP is the most devastating consequence of epilepsy, yet little is understood about its causes and no biomarkers exist to identify at risk patients. While SUDEP accounts for 7.5-20% of all epilepsy deaths, SUDEP risk in the genetic epilepsies varies with affected genes. Patients with ion channel gene

…with ion channel gene mutations (i.e., channelopathies), can underlie neurodevelopmental disorders such as neonatal and infantile epilepsies, strongly impair psychomotor development and cause persistent deficits in cognition, motor skills, or motor control. The therapeutic options available are very limited, and prophylactic therapies for patients at an increas