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

Mohammed AlMuhaizea^{1

2}, Rawan AlMass³, Aljouhra AlHargan³, Anoud AlBader³, Eva Medico Salsench⁴, Jude Howaidi³, Jacie Ihinger⁵, Peter Karachunski⁶, Amber Begtrup⁷, Monica Segura Castell⁸, Peter Bauer⁸, Aida Bertoli-Avella⁸, Ibrahim H Kaya², Jumanah AlSufayan³, Laila AlQuait³, Aziza Chedrawi¹, Stefan T Arold^{9

10}, Dilek Colak¹¹, Tahsin Stefan Barakat¹², Namik Kaya¹³

Affiliations

¹ Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
² College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
³ Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
⁴ Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
⁵ University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
⁶ Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
⁷ GeneDx, Gaithersburg, MD, 20877, USA.
⁸ CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
⁹ 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.
¹⁰ Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.
¹¹ Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
¹² Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
¹³ Department of Genetics, KFSHRC, Riyadh, Saudi Arabia. nkaya@kfshrc.edu.sa.

PMID: 32006098
DOI: 10.1007/s00401-020-02128-8

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

Mohammed AlMuhaizea et al. Acta Neuropathol. 2020 Apr.

. 2020 Apr;139(4):791-794.

doi: 10.1007/s00401-020-02128-8. Epub 2020 Jan 31.

Authors

Affiliations

¹ Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
² College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
³ Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
⁴ Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
⁵ University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
⁶ Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
⁷ GeneDx, Gaithersburg, MD, 20877, USA.
⁸ CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
⁹ 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.
¹⁰ Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.
¹¹ Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
¹² Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. t.barakat@erasmusmc.nl.
¹³ Department of Genetics, KFSHRC, Riyadh, Saudi Arabia. nkaya@kfshrc.edu.sa.

PMID: 32006098
DOI: 10.1007/s00401-020-02128-8

No abstract available

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

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

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