Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
Hugh J. McMillan(Children's Hospital of Eastern Ontario), Grace Yoon(Université du Québec à Montréal), Islay Thompson(North York General Hospital), Lea Velsher(Sunnybrook Health Science Centre), Daniel Lelli(Ottawa Hospital), Cas Simons(Garvan Institute of Medical Research), Charlotte A. Haaxma(Radboud University Nijmegen), Mohammadreza Dehghani(Azienda Unita' Sanitaria Locale Di Modena), David A. Koolen(Radboud University Nijmegen), Tuula Rinne(Radboud University Nijmegen), Amanda Singleton, Corrie E. Erasmus(Radboud University Medical Center), Heather M. McLaughlin, Francis C. Lynn(University of British Columbia), Aida Telegrafi(GenVec), John Christodoulou(The University of Melbourne), Laurie L. Molday(University of British Columbia), Diane Doummar(Sorbonne Université), Lindsay B. Henderson(Johns Hopkins University), Megan T. Cho, Cyril Mignot(Sorbonne Université), María J. Guillen Sacoto, Elena Martín‐Hernández(Hospital Universitario 12 De Octubre), Julie Griffin(University of Louisville), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Mohammad Yahya Vahidi Mehrjardi(Shahid Sadoughi University of Medical Sciences and Health Services), Robert S. Molday(University of British Columbia), Michel Tchan(Westmead Hospital), Alexander Asamoah(University of Louisville), Boris Keren(Sorbonne Université)
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