Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Defining the multiple roles of the mechanistic (formerly'mammalian') target of rapamycin
(mTOR) signalling pathway in neurological diseases has been an exciting and rapidly …

Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …

Genetic malformations of cortical development (MCDs), such as mild MCDs (mMCD), focal
cortical dysplasia (FCD), and hemimegalencephaly (HME), are major causes of severe …

The current widespread outbreak of Zika virus (ZIKV) infection has been linked to severe
clinical birth defects, particularly microcephaly, warranting urgent study of the molecular …

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

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

Inflammation is a self-defense response to protect individuals from infection and tissue
damage, but excessive or persistent inflammation can have adverse effects on cell survival …

Over the last decade, there has been increasing evidence that hyperactivation of the
mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical …

Proper neuronal migration and laminar formation during corticogenesis is essential for
normal brain function. Disruption of these developmental processes is thought to be …