Associated Papers
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.
Wang JY et al.
Frontiers in Molecular Neuroscience, 2022
A comprehensive and universal approach for embryo testing in patients with different genetic disorders.
Zhang S et al.
Clinical and Translational Medicine, 2021
Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.
Mahdieh N et al.
Clinical Neurology and Neurosurgery, 2018
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
Zhou H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2015
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
Bezzina CR et al.
Circulation Research, 2003
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