Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Scientific Reports
Kluckova, Daniela D; Kolnikova, Miriam M; Lacinova, Lubica L; Jurkovicova-Tarabova, Bohumila B; Foltan, Tomas T; Demko, Viktor V; Kadasi, Ludevit L; Ficek, Andrej A; Soltysova, Andrea A
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: SCN1A: 4982T>C; Phe1661Ser
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy.
Archives Of Neurology
Freilich, Emily R ER; Jones, Julie M JM; Gaillard, William D WD; Conry, Joan A JA; Tsuchida, Tammy N TN; Reyes, Christine C; Dib-Hajj, Sulayman S; Waxman, Stephen G SG; Meisler, Miriam H MH; Pearl, Phillip L PL