[HTML][HTML] 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 …

[HTML][HTML] Essential genetic findings in neurodevelopmental disorders

AR Cardoso, M Lopes-Marques, RM Silva, C Serrano… - Human genomics, 2019 - Springer
Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …

Mechanisms underlying circuit dysfunction in neurodevelopmental disorders

D Exposito-Alonso, B Rico - Annual Review of Genetics, 2022 - annualreviews.org
Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …

An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy

MJ Millan - Neuropharmacology, 2013 - Elsevier
Neurodevelopmental disorders (NDDs) are characterized by aberrant and delayed early-life
development of the brain, leading to deficits in language, cognition, motor behaviour and …

The genetics of neurodevelopmental disease

KJ Mitchell - Current opinion in neurobiology, 2011 - Elsevier
The term neurodevelopmental disorder encompasses a wide range of diseases, including
recognizably distinct syndromes known to be caused by very rare mutations in specific …

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review

C Hanly, H Shah, PYB Au, K Murias - Clinical genetics, 2021 - Wiley Online Library
Neurodevelopmental disorders (NDDs) are a heterogeneous group of conditions including
intellectual disability, global developmental delay, autism spectrum disorder, and attention …

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

BP Coe, HAF Stessman, A Sulovari, MR Geisheker… - Nature …, 2019 - nature.com
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

[HTML][HTML] mTOR pathway: insights into an established pathway for brain mosaicism in epilepsy

A Gerasimenko, S Baldassari, S Baulac - Neurobiology of Disease, 2023 - Elsevier
The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …

New insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives

A Mühlebner, A Bongaarts, HB Sarnat… - Journal of …, 2019 - Wiley Online Library
In recent years the role of the mammalian target of rapamycin (mTOR) pathway has
emerged as crucial for normal cortical development. Therefore, it is not surprising that …

Annual research review: the (epi) genetics of neurodevelopmental disorders in the era of whole‐genome sequencing–unveiling the dark matter

DP Kiser, O Rivero, KP Lesch - Journal of Child Psychology …, 2015 - Wiley Online Library
Background and Scope Neurodevelopmental disorders (NDD s) are defined by a wide
variety of behavioural phenotypes, psychopathology and clinically informed categorical …