Associated Papers
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File007.pdf
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM23_ESM.xlsx › Sheet1
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
Genetic diagnosis for adult patients at a genetic clinic.
Rojnueangnit K et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
Vezyroglou A et al.
Developmental Medicine and Child Neurology, 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
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN et al.
Epilepsy Research, 2018
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K et al.
Seizure, 2018
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Ohmori I et al.
Neurobiology of Disease, 2013
SCN1A mutational analysis in Korean patients with Dravet syndrome.
Lim BC et al.
Seizure, 2011
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
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