Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Marieke M van der Knoop(Erasmus MC), Henry Houlden(University College London), Amir Peleg(Technion – Israel Institute of Technology), Sateesh Maddirevula(King Faisal Specialist Hospital & Research Centre), Lilach Shemer-Meiri(Carmel Medical Center), Yoko Hirano, Tobias B. Haack(Technical University of Munich), D.J. Kamphuis(Reinier de Graaf Hospital), David Overberg(Klinikum Bremen-Mitte), Masaki Fukata(The Graduate University for Advanced Studies, SOKENDAI), Vykuntaraju K. Gowda(Indira Gandhi Institute of Child Health), Rodrigo Ambrósio Fock(Universidade Federal de São Paulo), Jumana Haddad‐Halloun(Technion – Israel Institute of Technology), Heather C. Mefford(University of Washington), V. Yu. Voinova(Pirogov Russian National Research Medical University), Rita Horváth(Wellcome Centre for Mitochondrial Research), Alison Eaton(University of Alberta), Barbara Vona(Broad Institute), Firdous Abdulwahad(King Faisal Specialist Hospital & Research Centre), Yuri Miyazaki(National Institutes of Natural Sciences), Anna‐Elina Lehesjoki(University of Helsinki), David Murphy(National Hospital for Neurology and Neurosurgery), Mikko Muona(University of Helsinki), Alison M. Muir(University of Washington), Stephanie Spranger(University Medical Center Groningen), Yvette van Ierland(Erasmus MC), Majid Alfadhel(King Saud bin Abdulaziz University for Health Sciences), Stephan Waldmüller(Witten/Herdecke University), François D. Morneau-Jacob(University of Alberta), Yuko Fukata(National Institutes of Natural Sciences), Mariasavina Severino(Istituto Giannina Gaslini), Marina de França(Universidade Federal de São Paulo), Varunvenkat M. Srinivasan(Indira Gandhi Institute of Child Health), Hanns Lochmüller(Muscular Dystrophy UK), Inna Povolotskaya(Pirogov Russian National Research Medical University), Yvonne Hilhorst‐Hofstee(Leiden University Medical Center), Ehsan Ghayoor Karimiani(St George's, University of London), Cacha Peeters‐Scholte(Leiden University Medical Center), Abolfazl Rad(Sabzevar University of Medical Sciences), Claudia Ruivenkamp(The Netherlands Cancer Institute), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Lena Sagi‐Dain(Technion – Israel Institute of Technology), Semra Hız Kurul(Dokuz Eylül University), Christian Beetz(Jena University Hospital), Laila Selim(Cairo University), Pasquale Striano(Great Ormond Street Hospital), Anders Paetau(Helsinki University Hospital)
Brain
April 4, 2022
Cited by 42


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