Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brain : A Journal Of Neurology
Brunklaus, Andreas A; Feng, Tony T; BrĂ¼nger, 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
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O
De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O