Severe deficiency of the voltage-gated sodium channel NaV1. 2 elevates neuronal excitability in adult mice
Scn2a encodes the voltage-gated sodium channel Na V 1.2, a main mediator of neuronal
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
action potential firing. The current paradigm suggests that Na V 1.2 gain-of-function variants …
Hyperexcitability and pharmacological responsiveness of cortical neurons derived from human iPSCs carrying epilepsy-associated sodium channel Nav1. 2-L1342P …
With the wide adoption of genomic sequencing in children having seizures, an increasing
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
number of SCN2A genetic variants have been revealed as genetic causes of epilepsy …
Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids
Autism spectrum disorder (ASD) is a major neurodevelopmental disorder affecting 1 in 36
children in the United States. While neurons have been the focus of understanding ASD, an …
children in the United States. While neurons have been the focus of understanding ASD, an …
Characterizing sensory phenotypes of subgroups with a known genetic etiology pertaining to diagnoses of autism spectrum disorder and intellectual disability
CM Hudac, NR Friedman, VR Ward… - Journal of Autism and …, 2024 - Springer
We aimed to identify unique constellations of sensory phenotypes for genetic etiologies
associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID) …
associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID) …
[HTML][HTML] Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms
Autism spectrum disorder (ASD) affects~ 2% of the population in the US, and monogenic
forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A …
forms of ASD often result in the most severe manifestation of the disorder. Recently, SCN2A …
Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice
DM Echevarria-Cooper, NA Hawkins… - Human molecular …, 2022 - academic.oup.com
Genetic variants in SCN2A, encoding the NaV1. 2 voltage-gated sodium channel, are
associated with a range of neurodevelopmental disorders with overlapping phenotypes …
associated with a range of neurodevelopmental disorders with overlapping phenotypes …
Paradoxical hyperexcitability in disorders of neurodevelopment
MW Antoine - Frontiers in Molecular Neuroscience, 2022 - frontiersin.org
Autism Spectrum Disorder (ASD), Rett syndrome (RTT) and Angelman Syndrome (AS) are
neurodevelopmental disorders (NDDs) that share several clinical characteristics, including …
neurodevelopmental disorders (NDDs) that share several clinical characteristics, including …
Impaired cerebellar plasticity hypersensitizes sensory reflexes in SCN2A-associated ASD
C Wang, KD Derderian, E Hamada, X Zhou, AD Nelson… - Neuron, 2024 - cell.com
Children diagnosed with autism spectrum disorder (ASD) commonly present with sensory
hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can …
hypersensitivity or abnormally strong reactions to sensory stimuli. Such hypersensitivity can …
A sexually dimorphic signature of activity-dependent BDNF signaling on the intrinsic excitability of pyramidal neurons in the prefrontal cortex
K Ma, D Zhang, K McDaniel, M Webb… - Frontiers in Cellular …, 2024 - frontiersin.org
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders with strong
genetic heterogeneity and more prevalent in males than females. We and others …
genetic heterogeneity and more prevalent in males than females. We and others …
Scn2a insufficiency alters spontaneous neuronal Ca2+ activity in somatosensory cortex during wakefulness
SCN2A protein-truncating variants (PTV) can result in neurological disorders such as autism
spectrum disorder and intellectual disability, but they are less likely to cause epilepsy in …
spectrum disorder and intellectual disability, but they are less likely to cause epilepsy in …