Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
定义和扩展QARS相关发育性癫痫性脑病的表型
期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000373
Johannesen, Katrine M; Mitter, Diana; Janowski, Robert; Roth, Christian; Toulouse, Joseph; Poulat, Anne-Lise; Ville, Dorothee M; Chatron, Nicolas; Brilstra, Eva; Geleijns, Karin; Born, Alfred Peter; McLean, Scott; Nugent, Kimberly; Baynam, Gareth; Poulton, Cathryn; Dreyer, Lauren; Gration, Dylan; Schulz, Solveig; Dieckmann, Andrea; Helbig, Katherine L; Merkenschlager, Andreas; Jamra, Rami; Finck, Anja; Gardella, Elena; Hjalgrim, Helle; Mirzaa, Ghayda; Brancati, Francesco; Bierhals, Tatjana; Denecke, Jonas; Hempel, Maja; Lemke, Johannes R; Rubboli, Guido; Muschke, Petra; Guerrini, Renzo; Vetro, Annalisa; Niessing, Dierk; Lesca, Gaetan; Møller, Rikke S