Voltage-gated sodium channels mutations and their role in epilepsy

Andrzej Patyra (1) , Grzegorz Witkowski (2)

1 IBMM - Institut des Biomolécules Max Mousseron [Pôle Chimie Balard]
2 Institute of Psychiatry and Neurology [Warsaw]

Voltage-gated ion channels play a pivotal role in cell signaling. They are responsible for generating action potential and repolarization. For this reason, dysfunctions of these channels are more and more often associated with the occurrence of both congenital and acquired neurological diseases, such as epilepsies, migraines, ataxias, or neuromyotonia. Clinical symptoms of neuronal ion channel dysfunction differ significantly, reflecting the role and distribution of a given channel in the central and peripheral nervous systems. This paper reviews voltage-gated sodium channel structure, physiology, mutations, and their role in epilepsy.

Mots clés: Voltage-gated sodium channel; Epilepsy; Dravet syndrome; GEFS+; SCN1A

Domaines: Neurobiologie

Andrzej Patyra, Grzegorz Witkowski. Voltage-gated sodium channels mutations and their role in epilepsy. Biuletyn Wydziału Farmaceutycznego Warszawskiego Uniwersytetu Medycznego, 2022, 1 (1), pp.11-18. ⟨hal-03699768⟩