Epilepsygenetics.net Website Review

HCN1 UPDATE. Hyperpolarization-activated cation channels (HCN) are involved in neuronal pacemaker activity and regulate neuronal developmental and epileptic encephalopathy (DEE). However, in the intervening four years relatively little additional evidence has epilepsies and significantly expands the clinical spectrum beyond Dravet-like DEE. Continue reading → 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, single gene. Haploinsufficiency is the proposed disease mechanism and a significant number of individuals have deletions or. BIG DATA, ONTOLOGIES, AND THE PHENOTYPIC BOTTLE NECK IN EPILEPSY RESEARCH. UNCONNECTED DATA. Within the field of biomedicine, large datasets are increasingly emerging. These datasets include the genomic, imaging, and EEG datasets that we are somewhat familiar with, but also many large unstructured datasets, including data from biomonitors, wearables, and the electronic medical records (EMR). It appears that the abundance of these datasets makes the promise of precision medicine tangible – achieving an individualized treatment that is based on data, synthesizing available information across various that help put data into context. This review is a perfect segue to introduce the increasing focus on computational phenotypes within our group in order to overcome the phenotypic bottleneck in epilepsy genetics. Continue reading → THE CALCIUM CONNECTION. Pathogenic variants in genes encoding voltage-gated ion channels have long been known to cause neurological But evidence of a role for other neuronal calcium channels in epilepsy has been sparse until now. Our publication