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] A clinical primer on intellectual disability

DR Patel, MD Cabral, A Ho, J Merrick - Translational pediatrics, 2020 - ncbi.nlm.nih.gov
Abstract Between 1% and 3% of persons in general population are estimated to have some
degree of intellectual disability. A diagnosis of intellectual disability is based on clinical …

Intellectual disability genomics: current state, pitfalls and future challenges

N Maia, MJ Nabais Sá, M Melo-Pires, APM de Brouwer… - BMC genomics, 2021 - Springer
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

Mapping the molecular and cellular complexity of cortical malformations

E Klingler, F Francis, D Jabaudon, S Cappello - Science, 2021 - science.org
INTRODUCTION The cerebral cortex, or neocortex, is critical to key mammalian skills such
as language, sociability, and sensorimotor control. This structure consists of dozens of …

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature Genetics, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

The genetics of intellectual disability

S Jansen, LELM Vissers, BBA de Vries - Brain Sciences, 2023 - mdpi.com
Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Where do neurodevelopmental disorders go? Casting the eye away from childhood towards adulthood

G Antolini, M Colizzi - Healthcare, 2023 - mdpi.com
Neurodevelopmental disorders (NDDs) encompass a group of complex conditions with
onset during the early developmental period. Such disorders are frequently associated with …

Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

NP Achilly, W Wang, HY Zoghbi - Nature, 2021 - nature.com
Mutations in the X-linked gene MECP2 cause Rett syndrome, a progressive neurological
disorder in which children develop normally for the first one or two years of life before …

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

[HTML][HTML] Genetic analysis of intellectual disability and autism

P Chiurazzi, AK Kiani, J Miertus, S Barati… - Acta Bio Medica …, 2020 - ncbi.nlm.nih.gov
Methods and Results: We identified monogenic ID/ASD conditions through PubMed and
other NCBI databases. Many such genes are located on the X chromosome (> 150 out of …