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