Metrion Webinar – Manoj Patel
Dates and times
November 29th @ 16:00
November 29th @ 17:00
Metrion Biosciences “Ion Channels in Drug Discovery” webinar series will take place again this November. Manoj K. Patel, Ph.D, Associate Professor at the University of Virginia will speak about “Gain-of-function mutations in Nav1.6 and epileptic seizures“.
Please register at the following link:
A summary of the talk is given below:
Many de novo missense mutations of SCN8A, the gene that encodes for Nav1.6, have been identified and patients have seizure onset between birth and 12 months of age. Patients with these mutations have seizures that are difficult to control. As such, they have an increased chance of dying unexpectedly from a seizure (SUDEP). My laboratory has begun to evaluate a number of these patient mutations. We have shown that Nav1.6 mutations that are associated with seizure onset are typically gain-of-function (GOF) mutations, while loss-of-function (LOF) mutations are typically associated with intellectual disability (ID) and sometimes absence seizures. Using two mice mouse models of SCN8A epilepsy we have began to evaluate the effects of GOF mutations on both excitatory and inhibitory neurons to better understand how alterations in the biophysical properties of Nav1.6, as a result of a mutation, can facilitate seizure onset.
Manoj Patel – Biography:
Manoj earned his BSc and Ph.D. in Physiology at the University of Coventry, UK. After completing his Ph.D., Manoj continued his electrophysiology training as a postdoc at the University of Virginia, USA, University of Bristol, UK and finally at the University of Cambridge/Pfizer GRD, UK. Manoj returned to the University of Virginia in 2000 where he began establishing his own independent research laboratory.
Over the past twenty year’s Manoj’s laboratory has focused on understanding the role of voltage-gated ion channels, particularly sodium (Na) and T-type calcium channels, in the development of epilepsy. Na and T-type calcium channels play a critical role in controlling neuronal excitability. Manoj’s research has focused on understanding the importance of these ion channels in establishing and facilitating the neuronal hyper-excitability associated with epileptic seizures.