Lubov Blumkin

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: WES analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRin1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations.

TL;DR: Variable expression and nonpenetrance are confirmed as important characteristics of the IFIH1 genotype, a consistent association with enhanced type I interferon signaling, and a common mutational mechanism involving increased RNA binding affinity or decreased efficiency of ATP hydrolysis and filament disassembly rate.

TL;DR: It is proposed that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability.

TL;DR: In conclusion, whole exome sequencing is useful in obtaining a high detection rate for previously undiagnosed disorders and could affect diagnosis, treatment, and prognostics for both patients and relatives.