Key result
This review analyzes the current literature on the properties of different isoforms of voltage-gated sodium channels and their association with congenital disorders.
Provides a comprehensive overview of voltage-gated sodium channel isoforms and their role in various congenital channelopathies.
Answers are grounded in this paper and cite their sources.
May guide variant interpretation in channelopathies without altering practice; leaves open isoform-specific therapeutic targets.
Voltage-gated sodium channels are heteromeric transmembrane proteins involved in the conduction of sodium ion currents in response to membrane depolarization. In humans, nine homologous genes, SCN1A–11A , which encode different isoforms of the voltage-gated sodium channel family, are known. Sodium channel isoforms exhibit different kinetic properties that determine different types of neurons. Mutations in different channels are described in patients with various congenital disorders, from epilepsy to congenital insensitivity to pain. This review presents an analysis of the current literature on the properties of different isoforms of voltage-gated sodium channels and associated diseases.
No takes yet. Share an insight, caveat, or question.
Marakhonov et al. (2018) conducted a review in Sodium channelopathies. This review analyzes the current literature on the properties of different isoforms of voltage-gated sodium channels and their association with congenital disorders.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: