Dennis Lal

TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.

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: De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features.

TL;DR: The clinical presentations and genetic variations in CDD are reviewed based on a systematic literature review and experience in the CDKL5 Centers of Excellence, and a minimum diagnostic criteria is proposed.

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.