Patrick Cossette

TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.

TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.

TL;DR: The identification of two putative causative mutations are reported: one being a de novo deletion at an intronic donor splice site and one missense transmitted from an epileptic father, which further support the role of SHANK3 gene disruption in the etiology of ASD.

TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.

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.