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
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
Co-occurring malformations of cortical development and SCN1A gene mutations.
Barba C et al.
Epilepsia, 2014
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
Le Gal F et al.
Epilepsia, 2010
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