Davide Mei

TL;DR: Video‐electroencephalography monitoring early in the course of CDKL5‐related epileptic encephalopathy is performed in order to examine the early electroclinical characteristics of the condition.

TL;DR: Constitutional and mosaic mutations in the PIK3R2 gene are associated with a spectrum of developmental brain disorders ranging from BPP with a normal head size to the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, and challenging conventional molecular methods have important implications for genetic testing and counseling.

TL;DR: There appears to be an etiologic continuum between hemimegalencephaly and focal cortical dysplastic lesions and the extent of brain malformations due to AKT3 upregulation may be related to the embryonic stage when the post‐zygotic gene alteration occurs.

TL;DR: Four families in which carrier women had normal brain magnetic resonance imaging and mild mental retardation and carrier women with normal MRI showed no somatic mosaicism or altered X‐inactivation in lymphocytes, suggesting a correlation between mild mutations and phenotypes.

TL;DR: Intrafamilial variability in phenotype severity indicates that SCN1A loss of function causes a phenotypic spectrum in which seizures precipitated by fever are prominent and schematic syndrome subdivisions would be inappropriate, and should be ruled out even in individuals with mild phenotypes.