Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants
致病性GABRG2功能丧失和功能获得变异个体的表型谱
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000213644
Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K