Associated Papers
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee J et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing.
Lee J et al.
Annals of Clinical and Laboratory Science, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
31001185 (PubMed )
Supplement: Table_1.XLSX › SCN1A_Mutations_in_DS
Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
Lee YJ et al.
Neuroimage. Clinical, 2017
Pitfalls in genetic testing: the story of missed SCN1A mutations.
Djémié T et al.
Molecular Genetics & Genomic Medicine, 2016
Select a paper to view details