Epilepsy in adults
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 …
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 …
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 …
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 …
that have a variable age of onset, based on expert consensus of the International League …
The genetics of epilepsy
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
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
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
Somatic mosaicism and neurodevelopmental disease
Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …
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
Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the
cerebral cortex characterized by dysmorphic neurons, dyslamination and medically …
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 …
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 …
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 …
been studied in a wide range of clinical and scientific settings (epilepsy, sleep medicine …