Associated Papers
A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.
Chourasia N et al.
Pediatric Neurology, 2024
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
Marco-Hernández AV et al.
Journal of Child Neurology, 2022
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Xie H et al.
Epilepsy Research, 2019
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
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
Li N et al.
Neuroscience Letters, 2010
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