Article

Base Editing Rescue of Seizures and SUDEP in <i>SCN8A</i> Developmental Epileptic Encephalopathy

2025-04-09

Abstract excerpt

SCN8A encodes the sodium channel Na v 1.6; mutations in SCN8A , particularly gain-of-function variants, cause SCN8A developmental and epileptic encephalopathy (DEE), a severe epilepsy syndrome characterized by seizures, cognitive dysfunction, and seizure-induced death. The recurrent SCN8A variant R1872W impairs channel inactivation, causing neuronal hyperexcitability and seizures. Current treatments for SCN8A...

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Literature Corpus work: c4d36736-e2c9-58f6-b2fa-412959fe0da5
DOI: 10.1101/2025.04.09.647983

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