De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.
Ambrosino, Paolo PhD 1,+; Soldovieri, Maria Virginia PhD 1,+; Bast, Thomas MD 2,3; Turnpenny, Peter D. MB, ChB 4; Uhrig, Sabine MD 5; Biskup, Saskia MD, PhD 6; Docker, Miriam MSc 6; Fleck, Thilo MD 7; Mosca, Ilaria BS 1; Manocchio, Laura PhD 1; Iraci, Nunzio PhD 8; Taglialatela, Maurizio MD, PhD 9,+; Lemke, Johannes R. MD *,10,+
Annals of Neurology.
83(6):1198-1204, June 2018.
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