Advances in clinical genetic testing, including the introduction of exome sequencing, have
uncovered the molecular etiology for many rare and previously unsolved genetic disorders …

The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Somatic mosaicism is a known cause of neurological disorders, including developmental
brain malformations and epilepsy. Brain mosaicism is traditionally attributed to post-zygotic …

The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …

Objective Epilepsy‐associated developmental lesions, including malformations of cortical
development and low‐grade developmental tumors, represent a major cause of drug …

During the past decade, there have been considerable advances in understanding of the
genetic and morphogenic processes underlying cortical malformations and developmental …

Hyperactivation of PI3K/PTEN-mTOR signaling during neural development is associated
with focal cortical dysplasia (FCD), autism, and epilepsy. mTOR can signal through two …

Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and
cortical malformations in humans. Some gene variants associated with these pathologies …

Epilepsy surgery should be considered in all patients with drug-resistant focal epilepsy. The
diagnostic presurgical evaluation aims to delineate the epileptogenic zone and its …

Research efforts over the past decade have defined the genetic landscape of somatic
variation in the brain. Neurons accumulate somatic mutations from development through …