Else Eising

TL;DR: This study sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech and identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment.

TL;DR: Evidence that epigenetic mechanisms play an important role in disease etiology of migraine is focused on, which may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency.

TL;DR: Findings from the largest CNV neuroimaging study to date provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected.

TL;DR: This work integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology and used the high-confidence genes from the GWAS as a basis to construct local migraine-related co-expression gene networks.

TL;DR: In this paper, it is unclear whether patients diagnosed according to International Classification of Headache Disorders criteria for migraine with aura (MA) and migraine without aura (MO) experience d...