Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention
O Devinsky, DC Hesdorffer, DJ Thurman… - The Lancet …, 2016 - thelancet.com
Sudden unexpected death in epilepsy (SUDEP) can affect individuals of any age, but is most
common in younger adults (aged 20–45 years). Generalised tonic-clonic seizures are the …
common in younger adults (aged 20–45 years). Generalised tonic-clonic seizures are the …
Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …
[HTML][HTML] A prospective study of sudden cardiac death among children and young adults
RD Bagnall, RG Weintraub, J Ingles… - … England Journal of …, 2016 - Mass Medical Soc
Background Sudden cardiac death among children and young adults is a devastating event.
We performed a prospective, population-based, clinical and genetic study of sudden cardiac …
We performed a prospective, population-based, clinical and genetic study of sudden cardiac …
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 …
Autonomic manifestations of epilepsy: emerging pathways to sudden death?
Epileptic networks are intimately connected with the autonomic nervous system, as
exemplified by a plethora of ictal (during a seizure) autonomic manifestations, including …
exemplified by a plethora of ictal (during a seizure) autonomic manifestations, including …
Mortality in Dravet syndrome
We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy
(SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited …
(SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited …
The landscape of epilepsy-related GATOR1 variants
S Baldassari, F Picard, NE Verbeek… - Genetics in …, 2019 - nature.com
Purpose To define the phenotypic and mutational spectrum of epilepsies related to
DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator …
DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator …
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider… - The American Journal of …, 2016 - cell.com
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-
onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …
onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …
An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis
Rationale: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung
disease of unknown etiology. Objectives: The aim of this study was to use whole-exome …
disease of unknown etiology. Objectives: The aim of this study was to use whole-exome …
Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy
Background: Whole genome sequencing (WGS) is a comprehensive genetic testing
approach that reports most types of nucleotide variants. Objectives: This study sought to …
approach that reports most types of nucleotide variants. Objectives: This study sought to …