Associated Papers
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity.
Ji J et al.
Gene, 2025
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes.
Ma R et al.
Frontiers in Molecular Neuroscience, 2022
Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.
Zhou X et al.
Epilepsy Research, 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
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
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