Brain hemispheres are connected by commissural structures, which consist of white matter
fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an …

Neurodevelopmental disorders (NDDs) are multifaceted pathologic conditions manifested
with intellectual disability, autistic features, psychiatric problems, motor dysfunction, and/or …

Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …

Purpose HNRNPU haploinsufficiency is associated with developmental and epileptic
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …

Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of
neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …

Neurogenins are proneural transcription factors required to specify neuronal identity. Their
overexpression in human pluripotent stem cells rapidly produces cortical-like neurons with …

Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several
human diseases, such as neurodegenerative diseases. The RNA splicing process is …

BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …

Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess
of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates …