Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …

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

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

Importance Mesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy
subtype and is often refractory to antiseizure medications. While most patients with MTLE do …

Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during …

Over the past decade, there has been tremendous progress in understanding brain somatic
mosaicism in epilepsy in the research setting. Access to resected brain tissue samples from …

Background and Objectives The SLC35A2 gene, located at chromosome Xp11. 23, encodes
for a uridine diphosphate–galactose transporter. We describe clinical, genetic …

Objective Although genetic causes of drug-resistant focal epilepsy and selected focal
malformations of cortical development (MCD) have been described, a limited number of …

Brain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling
pathway cause focal epilepsies associated with focal cortical dysplasia type II. We …

CASK-related disorders are a form of rare X-linked neurological diseases and most of the
patients are females. They are characterized by several symptoms, including microcephaly …