Sodium channelopathies in neurodevelopmental disorders

MH Meisler, SF Hill, W Yu - Nature Reviews Neuroscience, 2021 - nature.com
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 …

Axon physiology

D Debanne, E Campanac, A Bialowas… - Physiological …, 2011 - journals.physiology.org
Axons are generally considered as reliable transmission cables in which stable propagation
occurs once an action potential is generated. Axon dysfunction occupies a central position in …

Deep sequencing of somatosensory neurons reveals molecular determinants of intrinsic physiological properties

Y Zheng, P Liu, L Bai, JS Trimmer, BP Bean, DD Ginty - Neuron, 2019 - cell.com
Dorsal root ganglion (DRG) sensory neuron subtypes defined by their in vivo properties
display distinct intrinsic electrical properties. We used bulk RNA sequencing of genetically …

Cryo-EM structure of human voltage-gated sodium channel Nav1.6

X Fan, J Huang, X Jin, N Yan - Proceedings of the National …, 2023 - National Acad Sciences
Voltage-gated sodium channel Nav1. 6 plays a crucial role in neuronal firing in the central
nervous system (CNS). Aberrant function of Nav1. 6 may lead to epilepsy and other …

Activity-dependent relocation of the axon initial segment fine-tunes neuronal excitability

MS Grubb, J Burrone - Nature, 2010 - nature.com
In neurons, the axon initial segment (AIS) is a specialized region near the start of the axon
that is the site of action potential initiation,,,,,. The precise location of the AIS varies across …

Distinct contributions of Nav1. 6 and Nav1. 2 in action potential initiation and backpropagation

W Hu, C Tian, T Li, M Yang, H Hou, Y Shu - Nature neuroscience, 2009 - nature.com
The distal end of the axon initial segment (AIS) is the preferred site for action potential
initiation in cortical pyramidal neurons because of its high Na+ channel density. However, it …

Signal processing in the axon initial segment

MHP Kole, GJ Stuart - Neuron, 2012 - cell.com
The axon initial segment (AIS) is a specialized membrane region in the axon of neurons
where action potentials are initiated. Crucial to the function of the AIS is the presence of …

Sodium channelopathies of skeletal muscle and brain

M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model

E Auffenberg, UBS Hedrich, R Barbieri… - The Journal of …, 2021 - Am Soc Clin Investig
Cortical spreading depression (CSD), a wave of depolarization followed by depression of
cortical activity, is a pathophysiological process implicated in migraine with aura and various …

The physiology of the axon initial segment

KJ Bender, LO Trussell - Annual review of neuroscience, 2012 - annualreviews.org
The action potential generally begins in the axon initial segment (AIS), a principle confirmed
by 60 years of research; however, the most recent advances have shown that a very rich …