Advancing the phenome alongside the genome in epilepsy studies

The development of high-throughput sequencing technologies has led to remarkable progress in understanding the genetic basis of human epilepsies. Over the last 5 years, more than 20 genes have been identified through genome-first approaches, identifying novel genes first and then working backwards to understand the associated phenotypes. This approach has been useful in epileptic encephalopathies, where family-based exome studies have identified a growing list of genes with causative de novo mutations.1

Source: Neurology - July 3, 2017 Category: Neurology Authors: Helbig, I., Lindhout, D. Tags: Cohort studies, Epilepsy semiology, Partial seizures, All Genetics, Association studies in genetics EDITORIALS Source Type: research