Population
Heterologously expressed recombinant WT-SCN1A channels and two GEFS+-associated mutations (R1648H, R1657C)
Comparison
R1648H and R1657C mutations in SCN1A vs WT-SCN1A channels
Design
Preclinical
Authors
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Informs SCN1A epilepsy variant mechanisms in models; leaves open human translation and cardiac parallels.
The study defines single-channel properties for WT-SCN1A and clarifies the mechanisms of dysfunction for two human epilepsy-associated sodium channel mutants.
Vanoye et al. (2005) studied this question.
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