Associated Papers
A Novel Skeletal Dysplasia With Premaxilla Overgrowth, Gingival Hyperplasia, and Dental Hypercementosis.
Yamaguti PM et al.
Clinical Genetics, 2025
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
Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.
Tan EH et al.
Journal of Pediatric Neurosciences, 2012
Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW et al.
Genes, Brain, and Behavior, 2012
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.
Pineda-Trujillo N et al.
Seizure, 2005
Select a paper to view details