391 Determining the effects of the pathogenic developmental and epileptic encephalopathy patient variant, SCN1B-p.R98C, on neuronal excitability

Objectives/Goals: Dravet syndrome is a developmental and epileptic encephalopathy associated with refractory seizures and a high risk of sudden unexpected death in epilepsy. A pathogenic biallelic variant in SCN1B, SCN1B-p.R98C, was identified in three patients with Dravet syndrome. Here we investig...

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Bibliographic Details
Main Authors: Amanda Catalfio, Daniel T. Kashima, Chunling Chen, Lori L. Isom
Format: Article
Language:English
Published: Cambridge University Press 2025-04-01
Series:Journal of Clinical and Translational Science
Online Access:https://www.cambridge.org/core/product/identifier/S2059866124010112/type/journal_article
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