Topic: channelopathies

Connect neuromuscular diagnosis with therapeutic decision-making through clinical lectures, interactive case workshops and participant case reports. The live 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

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

Brain and neuronal network development depend on a complex sequence of events, which include neurogenesis, migration, differentiation, synaptogenesis, and synaptic pruning. Perturbations to any of these processes, for example associated 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