Colin P. Doherty

TL;DR: Results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness and find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function.

TL;DR: The authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses that provide leads for epilepsy therapies based on underlying pathophysiology.

TL;DR: In the largest neuroimaging study to date, Whelan and colleagues report robust structural alterations across and within epilepsy syndromes, including shared volume loss in the thalamus, and widespread cortical thickness differences.

TL;DR: This meta-analysis describes a new locus not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis.

TL;DR: Genome-wide screens to identify copy number variation in patients with a diverse spectrum of epilepsy syndromes and in neurologically-normal controls implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions.