Axon Initial Segment Structure and Function in Health and Disease

PM Jenkins, KJ Bender - Physiological Reviews, 2024 - journals.physiology.org
At the simplest level, neurons are structured to integrate synaptic input and perform
computational transforms on that input, converting it into an action potential (AP) code. This …

Visual and auditory attention in individuals with DYRK1A and SCN2A disruptive variants

CM Hudac, K Dommer, M Mahony… - Autism …, 2024 - Wiley Online Library
This preliminary study sought to assess biomarkers of attention using
electroencephalography (EEG) and eye tracking in two ultra‐rare monogenic populations …

More than meets the eye: A conserved sensorimotor reflex helps unravel the circuit mechanisms of ASD

RJ Hyde, S Rudolph - Neuron, 2024 - Elsevier
Animal models are instrumental to understanding the mechanisms underlying autism
spectrum disorder, yet translating human behavioral phenotypes remains challenging …

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

KEJ Scott, MFH Arrieta, AJ Williams - arxiv preprint arxiv:2411.10421, 2024 - arxiv.org
SCN2A encodes the alpha subunit of the voltage-gated sodium channel Nav1. 2, which is
involved in action potential initiation and backpropagation in glutamatergic neurons …

Gestational valproic acid exposure enhances facial stimulation-evoked cerebellar mossy fiber-granule cell transmission via GluN2A subunit-containing NMDA …

YX Yuan, Y Liu, J Zhang, YH Bing, CY Chen… - Translational …, 2024 - nature.com
Valproic acid (VPA) is one of the most effective antiepileptic drugs, and exposing animals to
VPA during gestation has been used as a model for autism spectrum disorder (ASD) …

Untangling the Molecular Mechanisms Contributing to Autism Spectrum Disorder Using Stem Cells

Z Mattingly, S Chetty - Autism Research, 2025 - Wiley Online Library
Autism spectrum disorder (ASD) is a complex neuro developmental condition characterized
by significant genetic and phenotypic variability, making diagnosis and treatment …

[HTML][HTML] Crosstalk among WEE1 Kinase, AKT, and GSK3 in Nav1. 2 Channelosome Regulation

AK Singh, J Singh, NA Goode, F Laezza - International journal of …, 2024 - mdpi.com
The signaling complex around voltage-gated sodium (Nav) channels includes accessory
proteins and kinases crucial for regulating neuronal firing. Previous studies showed that one …

Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency

S Schamiloglu, H Wu, M Zhou, AC Kwan, KJ Bender - Eneuro, 2023 - eneuro.org
Dysfunction in the gene SCN2A, which encodes the voltage-gated sodium channel Nav1. 2,
is strongly associated with neurodevelopmental disorders including autism spectrum …

[HTML][HTML] SCN2A-linked myelination deficits and synaptic plasticity alterations drive auditory processing disorders in ASD

JH Kim, HG Bae, WC Wu, K Nip, E Gould - Research Square, 2024 - pmc.ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by
complex sensory processing deficits. A key unresolved question is how alterations in neural …

Scn2a deletion disrupts oligodendroglia function: Implication for myelination, neural circuitry, and auditory hypersensitivity in ASD

HG Bae, WC Wu, K Nip, E Gould, JH Kim - bioRxiv, 2024 - biorxiv.org
Autism spectrum disorder (ASD) is characterized by a complex etiology, with genetic
determinants significantly influencing its manifestation. Among these, the Scn2a gene …