The mechanistic target of rapamycin (mTOR) signaling pathway is a crucial cellular signaling hub that, like the nervous system itself, integrates internal and external cues to …
The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League …
P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50 million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
Traditionally, we have considered genetic mutations that cause neurodevelopmental diseases to be inherited or de novo germline mutations. Recently, we have come to …
JS Lim, W Kim, HC Kang, SH Kim, AH Park, EK Park… - Nature medicine, 2015 - nature.com
Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically …
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 …
This paper reviews advances in epilepsy in recent years with an emphasis on therapeutics and underlying mechanisms, including status epilepticus, drug and surgical treatments …
P Tinuper, F Bisulli, JH Cross, D Hesdorffer, P Kahane… - Neurology, 2016 - AAN Enterprises
The syndrome known as nocturnal frontal lobe epilepsy is recognized worldwide and has been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine …