Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

The Central Role of PI3K in Cell Signaling Phosphatidylinositol 3-kinase (PI3K) is involved
in multiple cell processes, including insulin signaling, cell growth, immunity, and brain …

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal
naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic …

Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

Importance Sirolimus is increasingly being used to treat various vascular anomalies,
although evidence of its efficacy is lacking. Objective To assess the efficacy and safety of …

The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …

Glioblastoma is a universally lethal form of brain cancer that exhibits an array of
pathophysiological phenotypes, many of which are mediated by interactions with the …

The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …