Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
ADAM22双等位基因致病变异会导致进行性脑病和婴儿期发病的难治性癫痫。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awac116
van der Knoop, Marieke M; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de França, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A L; Eaton, Alison J; Morneau-Jacob, Francois D; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J; Peeters-Scholte, Cacha M P C D; Kurul, Semra Hiz; Horvath, Rita; Lochmüller, Hanns; Murphy, David; Waldmüller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S; Voinova, Victoria Y; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Alkuraya, Fowzan S; Mefford, Heather C; Alfadhel, Majid; Haack, Tobias B; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry