Objective: To define the clinical, radiologic, and genetic features of periventricular
heterotopia (PH) with Ehlers-Danlos syndrome (EDS). Methods: Exonic sequencing and …

The primary cilium, a microtubule based organelle protruding from the cell surface and
acting as an antenna in multiple signaling pathways, takes center stage in the formation of …

Protein coats are supramolecular complexes that assemble on the cytosolic face of
membranes to promote cargo sorting and transport carrier formation in the endomembrane …

Several malformation syndromes with abnormal cortical development have been
recognized. Specific causative gene defects and characteristic electroclinical patterns have …

Purpose. Periventricular nodular heterotopia (PNH) is among the most common
malformations of cortical development, and affected patients are frequently characterized by …

Adherens junctions (AJs) are evolutionarily conserved plasma-membrane structures that
mediate cell–cell adhesions in multicellular organisms. They are organized by several types …

During development, neural precursors migrate in response to positional cues such as
growth factor gradients. However, the mechanisms that enable precursors to sense and …

The malformations of the cerebral cortex represent a major cause of developmental
disabilities, severe epilepsy and reproductive disadvantage. The advent of high-resolution …

A wide spectrum of focal, regional, or diffuse structural brain abnormalities, collectively
known as malformations of cortical development (MCDs), frequently manifest with …

Epilepsy and mental retardation, originally of unknown cause, are now known to result from
many defects including cortical malformations, neuronal circuitry disorders and perturbations …