Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined
neurodevelopmental disorder. Over the past two decades, the prevalence of autism …

This article describes the history of the diagnostic class of neurodevelopmental disorders
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …

Zoonomia is the largest comparative genomics resource for mammals produced to date. By
aligning genomes for 240 species, we identify bases that, when mutated, are likely to affect …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Sporadic Alzheimer's disease (AD) exclusively affects elderly people. Using direct
conversion of AD patient fibroblasts into induced neurons (iNs), we generated an age …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …

The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …

De novo variation in SCN2A can give rise to severe childhood disorders. Biophysical gain of
function in SCN2A is seen in some patients with early seizure onset developmental and …