Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their
characterization has largely been restricted to cytogenetic resolution. We explored the …

Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

Purpose The gold standard for diagnosing childhood apraxia of speech (CAS) is expert
judgment of perceptual features. The aim of this study was to identify a set of objective …

Human-induced pluripotent stem cells (hiPSCs) and CRISPR/Cas9 gene editing system
represent two instruments of basic and translational research, which both allow to acquire …

There is an increasing recognition of clinical overlap in patients presenting with epilepsy
and autism spectrum disorder (ASD), and a great deal of new information regarding the …

Background Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations
have been reported in patients with a developmental disorder described as a congenital …

A central question in Childhood Apraxia of Speech (CAS) is whether the core phenotype is
limited to transcoding (planning/programming) deficits or if speakers with CAS also have …

FoxM1 transcription factor (previously called HFH-11B, Trident, FoxM1b, Win, and MPP2) is
expressed in actively dividing cells and critical for cell cycle progression. FoxM1 expression …