Article

Variant-specific changes in persistent or resurgent Na <sup>+</sup> current in <i>SCN8A</i> -EIEE13 iPSC-derived neurons

2020-01-18

Abstract excerpt

Missense variants in the voltage-gated sodium channel (VGSC) gene, SCN8A , are linked to early-infantile epileptic encephalopathy type 13 (EIEE13). EIEE13 patients exhibit a wide spectrum of intractable seizure types, severe developmental delay, movement disorders, and elevated risk of sudden unexpected death in epilepsy (SUDEP). The mechanisms by which SCN8A variants lead to epilepsy are poorly understood, alth...

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Literature Corpus work: cc538858-f1af-5227-9b87-cd8771c6e94e
DOI: 10.1101/2020.01.16.909192

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