Description:

The Department of Pharmacology is pleased to announce an upcoming seminar, to be presented by Edward Cooper, M.D., Ph.D., Associate Professor of Neurology, Molecular and Human Genetics, and Neuroscience, Baylor College of Medicine.

The following, is an overview of this seminar, as described by Dr. Cooper:

"Broader sequencing has implicated new genes in epilepsy, intellectual disability, and autism. Can we harness these insights to develop new treatments? KCNQ2 is an example of the recent progress, opportunities, and challenges. De novo mutation of KCNQ2, a potassium channel subunit gene, has emerged since 2012 as an important cause of catastrophic epileptic encephalopathy arising in early infancy. We have carefully curated a database of (to date) 192 KCNQ2 de novo cases or pedigrees. In expression studies, different variants show gain-of-function, mild loss-of-function, and severe loss-of-function effects, as well as trafficking defects. In vitro drug screening efforts and compassionate patient use of an approved selective KCNQ2 opener have begun."