Epilepsy in adults

RD Thijs, R Surges, TJ O'Brien, JW Sander - The lancet, 2019 - thelancet.com
Epilepsy is one of the most common serious brain conditions, affecting over 70 million
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and …

The neurology of mTOR

JO Lipton, M Sahin - Neuron, 2014 - cell.com
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 …

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on …

K Riney, A Bogacz, E Somerville, E Hirsch… - …, 2022 - Wiley Online Library
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 …

The genetics of epilepsy

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 …

Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

AM D'Gama, MB Woodworth, AA Hossain, S Bizzotto… - Cell reports, 2017 - cell.com
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

Somatic mosaicism and neurodevelopmental disease

AM D'Gama, CA Walsh - Nature neuroscience, 2018 - nature.com
Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

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 …

Epilepsy in the mTORopathies: opportunities for precision medicine

PB Moloney, GL Cavalleri, N Delanty - Brain communications, 2021 - academic.oup.com
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 …

Recent advances in epilepsy

M Manford - Journal of neurology, 2017 - Springer
This paper reviews advances in epilepsy in recent years with an emphasis on therapeutics
and underlying mechanisms, including status epilepticus, drug and surgical treatments …

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

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 …