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 …

Epilepsy-related voltage-gated sodium channelopathies: a review

LFS Menezes, EF Sabiá Júnior, DV Tibery… - Frontiers in …, 2020 - frontiersin.org
Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

L Claes, J Del-Favero, B Ceulemans, L Lagae… - The American Journal of …, 2001 - cell.com
Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated
patients. The disease is characterized by generalized tonic, clonic, and tonic-clonic seizures …

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

FH Yu, M Mantegazza, RE Westenbroek… - Nature …, 2006 - nature.com
Voltage-gated sodium channels (NaV) are critical for initiation of action potentials.
Heterozygous loss-of-function mutations in NaV1. 1 channels cause severe myoclonic …

Incidence of Dravet syndrome in a US population

YW Wu, J Sullivan, SS McDaniel, MH Meisler… - …, 2015 - publications.aap.org
OBJECTIVE: De novo mutations of the gene sodium channel 1α (SCN1A) are the major
cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has …

Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

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 …

Childhood absence epilepsy: genes, channels, neurons and networks

V Crunelli, N Leresche - Nature Reviews Neuroscience, 2002 - nature.com
Childhood absence epilepsy is an idiopathic, generalized non-convulsive epilepsy with a
multifactorial genetic aetiology. Molecular-genetic analyses of affected human families and …

Comparative structural analysis of human Nav1.1 and Nav1.5 reveals mutational hotspots for sodium channelopathies

X Pan, Z Li, X **, Y Zhao, G Huang… - Proceedings of the …, 2021 - National Acad Sciences
Among the nine subtypes of human voltage-gated sodium (Nav) channels, the brain and
cardiac isoforms, Nav1. 1 and Nav1. 5, each carry more than 400 missense mutations …

Developmental neurotoxicity of pyrethroid insecticides: critical review and future research needs

TJ Shafer, DA Meyer, KM Crofton - Environmental health …, 2005 - ehp.niehs.nih.gov
Pyrethroid insecticides have been used for more than 40 years and account for 25% of the
worldwide insecticide market. Although their acute neurotoxicity to adults has been well …