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
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA et al.
Genomics, 2022
36270382 (PubMed )
Supplement: mmc11.xlsx › study_variants
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Symonds JD et al.
Brain : a Journal of Neurology, 2019
31302675 (PubMed )
Supplement: awz195_supplementary_data.zip › awz195-suppl_data › awz195_Supplementary_Table.pdf
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