The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
Biomedicines
Döring, Jan Henje JH; Saffari, Afshin A; Bast, Thomas T; Brockmann, Knut K; Ehrhardt, Laura L; Fazeli, Walid W; Janzarik, Wibke G WG; Kluger, Gerhard G; Muhle, Hiltrud H; Møller, Rikke S RS; Platzer, Konrad K; Santos, Joana Larupa JL; Bache, Iben I; Bertsche, Astrid A; Bonfert, Michaela M; Borggräfe, Ingo I; Broser, Philip J PJ; Datta, Alexandre N AN; Hammer, Trine Bjørg TB; Hartmann, Hans H; Hasse-Wittmer, Anette A; Henneke, Marco M; Kühne, Hermann H; Lemke, Johannes R JR; Maier, Oliver O; Matzker, Eva E; Merkenschlager, Andreas A; Opp, Joachim J; Patzer, Steffi S; Rostasy, Kevin K; Stark, Birgit B; Strzelczyk, Adam A; von Stülpnagel, Celina C; Weber, Yvonne Y; Wolff, Markus M; Zirn, Birgit B; Hoffmann, Georg Friedrich GF; Kölker, Stefan S; Syrbe, Steffen S
Publication Date: 2020-10-28
Variant appearance in text: PRRT2: 341_342del; Val114Glufs*19