Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na V 1.2,
are strongly associated with autism spectrum disorder and intellectual disability. An …

Dysfunction in sodium channels and their ankyrin scaffolding partners have both been
implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In …

Background Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A,
and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum …

The majority of autism spectrum disorder (ASD) risk genes are associated with ASD due to
haploinsufficiency, where only one gene copy is functional. Here, using SCN2A …

The timing and specificity of oligodendrocyte myelination during development, as well as
remyelination after injury or immune attack, remain poorly understood. Recent work has shown …

Parkinson's disease (PD) is a neurodegenerative disorder caused by complex genetic and
environmental factors. Genome-edited human pluripotent stem cells (hPSCs) offer the …

Parkinson’s disease (PD) is a devastating neurodegenerative disorder, with both genetic
and environmental causes. Human genetic studies have identified ∼20 inherited familial …

Objective Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A,
and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum …

Loss-of-function variants in the gene SCN2A, which encodes the sodium channel NaV1. 2,
are strongly associated with autism spectrum disorder and intellectual disability. An estimated …

… , and Atehsa Sahagun – with whom I shared the countless moments of excitement, tedium,
hilarity, failure, solace, and triumph that defined my time at UCSF. Working alongside such …