Molecular and cellular context influences SCN8A variant function.

doi:10.1172/jci.insight.177530

Article

Molecular and cellular context influences SCN8A variant function.

JCI insight - 21 May 2024

Vanoye Carlos G, Abramova Tatiana V, DeKeyser Jean-Marc, Ghabra Nora F, Oudin Madeleine J, Burge Christopher B, Helbig Ingo, Thompson Christopher H, George Alfred L

Abstract excerpt

Pathogenic variants in SCN8A, which encodes the voltage-gated sodium (NaV) channel NaV1.6, associate with neurodevelopmental disorders, including developmental and epileptic encephalopathy. Previous approaches to determine SCN8A variant function may be confounded by use of a neonatally expressed,...

Topics

NAV1.6 Voltage-Gated Sodium Channel
Humans
Protein Isoforms
Alternative Splicing
Tetrodotoxin
Neurons
Patch-Clamp Techniques
Mutation
Cell Line
Animals

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