HCN1 update. Hyperpolarization-activated cation channels (HCN) are involved in neuronal pacemaker activity and regulate neuronal excitability through hyperpolarization-activated Ih current. In 2014 de novo missense variants in HCN1 were identified in five unrelated individuals with a Dravet Syndrome-like developmental and epileptic encephalopathy (DEE). However, in the intervening four years relatively little additional evidence has emerged regarding the role of HCN1 in epilepsy. Now, a recent publication in Brain identifies additional individuals with HCN1-related epilepsies and significantly expands the clinical spectrum beyond Dravet-like DEE. Continue reading
Monthly Archives: December 2018
AES 2018 Recap: The Epilepsy Community Invades the Big Easy
NOLA.The American Epilepsy Society (AES) has wrapped up its annual meeting, which was held this year in New Orleans. AES is the largest meeting of epilepsy professionals working in clinical practice, academia, industry, and advocacy. It is a meeting I always look forward to as an opportunity to connect with friends and colleagues from across the world. As we all pack away our beads and digest our beignets, I would like to reflect on some of the major messages I, as an epilepsy genetics clinician and researcher, took away from this year’s AES annual meeting. Continue reading
