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 …

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

A Escayg, AL Goldin - Epilepsia, 2010 - Wiley Online Library
Mutations in a number of genes encoding voltage‐gated sodium channels cause a variety of
epilepsy syndromes in humans, including genetic (generalized) epilepsy with febrile …

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 …

Resurgence of sodium channel research

AL Goldin - Annual review of physiology, 2001 - annualreviews.org
▪ Abstract A variety of isoforms of mammalian voltage-gated sodium channels have been
described. Ten genes encoding sodium channel α subunits have been identified, and nine …

[PDF][PDF] Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon

T Boiko, MN Rasband, SR Levinson, JH Caldwell… - Neuron, 2001 - cell.com
Voltage-dependent sodium channels are uniformly distributed along unmyelinated axons,
but are highly concentrated at nodes of Ranvier in myelinated axons. Here, we show that …

Nodes of Ranvier during development and repair in the CNS

C Lubetzki, N Sol-Foulon, A Desmazières - Nature Reviews Neurology, 2020 - nature.com
Saltatory conduction of action potentials along myelinated axons depends on the nodes of
Ranvier—small unmyelinated axonal domains where voltage-gated sodium channels are …

[PDF][PDF] Polarized domains of myelinated axons

JL Salzer - Neuron, 2003 - cell.com
The entire length of myelinated axons is organized into a series of polarized domains that
center around nodes of Ranvier. These domains, which are crucial for normal saltatory …

Voltage-gated sodium channels as therapeutic targets

JJ Clare, SN Tate, M Nobbs, MA Romanos - Drug discovery today, 2000 - Elsevier
Voltage-gated sodium channels (VGSCs) play a central role in the generation and
propagation of action potentials in neurons and other cells. VGSC modulators have their …

Molecular domains of myelinated axons in the peripheral nervous system

JL Salzer, PJ Brophy, E Peles - Glia, 2008 - Wiley Online Library
Myelinated axons are organized into a series of specialized domains with distinct molecular
compositions and functions. These domains, which include the node of Ranvier, the flanking …

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy

MS Martin, B Tang, LA Papale, FH Yu… - Human molecular …, 2007 - academic.oup.com
The mammalian genome contains four voltage-gated sodium channel genes that are
primarily expressed in the central nervous system: SCN1A, SCN2A, SCN3A and SCN8A …