SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
Abstract
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only a minority has been functionally assessed. We review the functional SCN1A work performed to...
Paper Details
Title
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
Published Date
Nov 28, 2019
Journal
Volume
41
Issue
2
Pages
363 - 374
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