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 …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

hdWGCNA identifies co-expression networks in high-dimensional transcriptomics data

S Morabito, F Reese, N Rahimzadeh, E Miyoshi… - Cell reports …, 2023 - cell.com
Biological systems are immensely complex, organized into a multi-scale hierarchy of
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

JJ Lee, R Wedow, A Okbay, E Kong, O Maghzian… - Nature …, 2018 - nature.com
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 …

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

IE Scheffer, S Berkovic, G Capovilla, MB Connolly… - …, 2017 - Wiley Online Library
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 …

Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
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 …

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 …

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene

VS Ganesh, K Riquin, N Chatron, E Yoon… - … England Journal of …, 2024 - Mass Medical Soc
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 …

The genetic landscape of the epileptic encephalopathies of infancy and childhood

A McTague, KB Howell, JH Cross, MA Kurian… - The Lancet …, 2016 - thelancet.com
Epileptic encephalopathies of infancy and childhood comprise a large, heterogeneous
group of severe epilepsies characterised by several seizure types, frequent epileptiform …