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Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
disorders characterized by early-onset, often severe epileptic seizures and EEG …
hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data
Biological systems are immensely complex, organized into a multi-scale hierarchy of
functional units based on tightly regulated interactions between distinct molecules, cells …
functional units based on tightly regulated interactions between distinct molecules, cells …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
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 …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies
has been updated to reflect our gain in understanding of the epilepsies and their underlying …
has been updated to reflect our gain in understanding of the epilepsies and their underlying …
Developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …
characterized by seizures and frequent epileptiform activity associated with developmental …
The role of GABAergic signalling in neurodevelopmental disorders
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …
exciting new discoveries provides compelling evidence that disruptions in a number of key …
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 …
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene
CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding
gene in which de novo loss-of-function variants cause developmental and epileptic …
gene in which de novo loss-of-function variants cause developmental and epileptic …
The genetic landscape of the epileptic encephalopathies of infancy and childhood
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …
group of severe epilepsies characterised by several seizure types, frequent epileptiform …