Studies have demonstrated the neuroprotective effect of cannabidiol (CBD) and other
Cannabis sativa L. derivatives on diseases of the central nervous system caused by their …

Sequence-based genetic testing identifies causative variants in~ 50% of individuals with
developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA …

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in
regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and …

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …

Abstract Purpose of Review About 30% of epilepsy cases have an underlying genetic
etiology. Despite rapid progress with understanding the genetic underpinnings of epilepsy …

Purpose This study aims to assess the diagnostic utility and provide reporting
recommendations for clinical DNA methylation episignature testing based on the cohort of …

In vitro models of pediatric brain tumors (pBT) are instrumental for better understanding the
mechanisms contributing to oncogenesis and testing new therapies; thus, ideally, they …

JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a
clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability …

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most
common cause of dementia in the elderly worldwide. The exact etiology of AD, particularly …

Sequence-based genetic testing currently identifies causative genetic variants in∼ 50% of
individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in …