Herbert Schulz

TL;DR: This article identified three different heterozygous mutations in the chloride-channel gene CLCN2 in three unrelated families with idiopathic generalized epilepsy (IGE) and reported a gene associated with the four most common IGE subtypes: childhood and juvenile absence epilepsy (CAE and JAE), juvenile myoclonic epilepsy (JME), and epilepsy with grand mal seizures on awakening (EGMA).

TL;DR: A novel pacing system integrated in a setup for videooptical recording of EHT contractile function over time and whether sustained electrical field stimulation improved EHT properties appeared to be an important step toward the generation of fully mature EHT.

TL;DR: Systematic contractility analysis reveals that EHTs replicated canonical response to physiological and pharmacological regulators of inotropy, membrane- and calcium-clock mediators of pacemaking, modulators of ion-channel currents, and proarrhythmic compounds with unprecedented precision.

TL;DR: The present linkage findings provide suggestive evidence that at least three genetic factors confer susceptibility to generalised seizures in a broad spectrum of IGE syndromes.

TL;DR: The results demonstrate that the significantly increased burden of large and rare micro deletions in GGE patients is largely confined to recurrent hotspot microdeletions and microde letions affecting neurodevelopmental genes, suggesting a strong impact of fundamental neuro developmental processes in the pathogenesis of common GGE syndromes.