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Biallelic ADAM22 Pathogenic Variants Cause Progressive Encephalopathy and Infantile-Onset Refractory Epilepsy

Marieke M. van der Knoop,Reza Maroofian,Yuko Fukata,Yvette van Ierland,Ehsan G. Karimiani,Anna Elina Lehesjoki,Mikko Muona,Anders Paetau,Yuri Miyazaki,Yoko Hirano,Laila Selim, Marina de Franca,Rodrigo Ambrosio Fock,Christian Beetz,Claudia A. L. Ruivenkamp,Alison J. Eaton,Francois D. Morneau-Jacob,Lena Sagi-Dain,Lilach Shemer-Meiri,Amir Peleg,Jumana Haddad-Halloun,Daan J. Kamphuis,Cacha M. P. C. D. Peeters-Scholte,Semra Hiz Kurul,Rita Horvath,Hanns Lochmueller,David Murphy,Stephan Waldmueller,Stephanie Spranger, David Overberg,Alison M. Muir,Aboulfazl Rad,Barbara Vona, Firdous Abdulwahad,Sateesh Maddirevula,Inna S. Povolotskaya,Victoria Y. Voinova,Vykuntaraju K. Gowda,Varunvenkat M. Srinivasan,Fowzan S. Alkuraya,Heather C. Mefford,Majid Alfadhel,Tobias B. Haack,Pasquale Striano,Mariasavina Severino,Masaki Fukata,Yvonne Hilhorst-Hofstee,Henry Houlden

BRAIN（2022）

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关键词
ADAM22,LGI1,refractory seizures,developmental and epileptic encephalopathy
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