Associated Papers
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y et al.
Brain & Development, 2023
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
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