Mutations in the X-linked CDKL5 gene cause deficiency disorder (CDD), a severe neurodevelopmental condition mainly characterized by infantile epileptic encephalopathy, intellectual disability, and autistic features. The molecular mechanisms underlying clinical symptoms remain largely unknown identification of reliable biomarkers animal models will certainly contribute to increase our comprehens...

Due to the genetic and clinical heterogeneity of Rett syndrome, patients with nonclassic phenotypes are classified as an atypical Rett syndrome, that is, preserved speech variant, early seizure variant, and congenital variant. Respectively, MECP2, CDKL5, and FOXG1 have been found to be the causative genes, but FOXG1 variants are the rarest and least studied. We performed mutational analyses for...

BACKGROUND Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigate such impacts in families with a child with the CDKL5 disorder, a newly recognised genetic disorder causing severe neurodevelopmental impairments and refractory epilepsy. MET...