Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.,Acta Neuropathologica

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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
Acta Neuropathologica ( IF 9.3 ) Pub Date : 2020-01-31 , DOI: 10.1007/s00401-020-02128-8
Mohammed AlMuhaizea _{1,

2} , Rawan AlMass ₃ , Aljouhra AlHargan ₃ , Anoud AlBader ₃ , Eva Medico Salsench ₄ , Jude Howaidi ₃ , Jacie Ihinger ₅ , Peter Karachunski ₆ , Amber Begtrup ₇ , Monica Segura Castell ₈ , Peter Bauer ₈ , Aida Bertoli-Avella ₈ , Ibrahim H Kaya ₂ , Jumanah AlSufayan ₃ , Laila AlQuait ₃ , Aziza Chedrawi ₁ , Stefan T Arold _{9,

10} , Dilek Colak ₁₁ , Tahsin Stefan Barakat ₄ , Namik Kaya ₃

Affiliation

Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
GeneDx, Gaithersburg, MD, 20877, USA.
CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.
Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.
Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.