A5012251464- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Vestibular and auditory disorders
- Ion channel regulation and function
- Neuroscience and Neural Engineering
- Hearing, Cochlea, Tinnitus, Genetics
- CRISPR and Genetic Engineering
- Neuroscience and Neuropharmacology Research
- Neural dynamics and brain function
- Advanced Memory and Neural Computing
- Amyotrophic Lateral Sclerosis Research
- Cardiac electrophysiology and arrhythmias
- Cellular transport and secretion
- Neuroscience of respiration and sleep
- Genetics, Aging, and Longevity in Model Organisms
- Cerebrospinal fluid and hydrocephalus
University of California, San Francisco
2021-2024
University of California, Berkeley
2019
Loss-of-function variants in the gene SCN2A, which encodes sodium channel NaV1.2, are strongly associated with autism spectrum disorder and intellectual disability. An estimated 20%–30% of children these also suffer from epilepsy, altered neuronal activity originating neocortex, a region where NaV1.2 channels expressed predominantly excitatory pyramidal cells. This is paradoxical, as loss cells would be expected to dampen neocortical rather than promote seizure. Here, we examined neurons...
Children diagnosed with autism spectrum disorder (ASD) commonly present sensory hypersensitivity or abnormally strong reactions to stimuli. Such can be overwhelming, causing high levels of distress that contribute markedly the negative aspects disorder. Here, we identify a mechanism underlies in sensorimotor reflex found altered humans and mice loss function ASD risk-factor gene SCN2A. The cerebellum-dependent vestibulo-ocular (VOR), which helps maintain one's gaze during movement, was...
ABSTRACT 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 a major factor for ASD, we show that increasing the expression existing functional allele CRISPR activation (CRISPRa) can provide viable therapeutic approach. We first demonstrate potential by showing restoring Scn2a in adolescent heterozygous conditional knock-in mice rescues electrophysiological deficits...
Children diagnosed with autism spectrum disorder (ASD) commonly present sensory hypersensitivity, or abnormally strong reactions to stimuli. Such hypersensitivity can be overwhelming, causing high levels of distress that contribute markedly the negative aspects disorder. Here, we identify mechanisms underlie in a sensorimotor reflex found altered humans and mice loss-of-function ASD risk-factor gene
Abstract The neuron is the fundamental unit of computation in nervous system, and different types produce temporal patterns voltage fluctuations response to input currents. Understanding mechanism single firing requires accurate knowledge spatial densities diverse ion channels along membrane. However, direct measurements these microscopic variables are difficult obtain experimentally. Alternatively, one can attempt infer those from membrane potential (a mesoscopic variable), or features...
ABSTRACT Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes channel NaV1.2, ANK2, ankyrin-B, strong ASD association. Recent studies indicate that ASD-associated haploinsufficiency Scn2a impairs dendritic excitability synaptic function neocortical pyramidal cells, but how NaV1.2 is anchored within regions unknown. Here, we show...