Associated Papers
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
39932319 (PubMed )
Supplement: EPI-66-e66-s002.xlsx › Supplementary_Data_1
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2
High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes.
Kwong AK et al.
Epilepsia Open, 2021
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
Yamagata K et al.
Circulation, 2017
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
Kwong AK et al.
Plos One, 2012
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