Konrad Platzer

TL;DR: Although the number of targeted genes was low compared to previous studies, the mutation detection rate was highest which likely results from completeness and depth of coverage, and quantitative data analysis.

TL;DR: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations, a large number of mutations are identified using a single gene-based approach.

TL;DR: Evidence is found that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies, and an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated.

TL;DR: The findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between F HS and RTS.

TL;DR: The results reveal two phenotypic subgroups associated with different classes of variants affecting distinct domains of the GluN2A protein with different functional consequences that will help predict outcomes in newly diagnosed individuals.