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

Mohammed AlMuhaizea; Rawan AlMass; Aljouhra AlHargan; Anoud AlBader; Eva Medico Salsench; Jude Howaidi; Jacie Ihinger; Peter Karachunski; Amber Begtrup; Monica Segura Castell; Peter Bauer; Aida Bertoli-Avella; Ibrahim H. Kaya; Jumanah AlSufayan; Laila AlQuait; Aziza Chedrawi; Stefan T. Arold; Dilek Colak; Tahsin Stefan Barakat; Namik Kaya

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, Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida Bertoli-Avella, Ibrahim H. Kaya, Jumanah AlSufayan, Laila AlQuait, Aziza Chedrawi, Stefan T. Arold, Dilek Colak, Tahsin Stefan Barakat, Namik Kaya

Neurology

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Original language	English (US)
Pages (from-to)	791-794
Number of pages	4
Journal	Acta Neuropathologica
Volume	139
Issue number	4
DOIs	https://doi.org/10.1007/s00401-020-02128-8
State	Published - Apr 1 2020

Bibliographical note

Funding Information:
We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

Funding Information:
We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

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AlMuhaizea, M., AlMass, R., AlHargan, A., AlBader, A., Medico Salsench, E., Howaidi, J., Ihinger, J., Karachunski, P., Begtrup, A., Segura Castell, M., Bauer, P., Bertoli-Avella, A., Kaya, I. H., AlSufayan, J., AlQuait, L., Chedrawi, A., Arold, S. T., Colak, D., Barakat, T. S., & Kaya, N. (2020). Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathologica, 139(4), 791-794. https://doi.org/10.1007/s00401-020-02128-8

AlMuhaizea, M, AlMass, R, AlHargan, A, AlBader, A, Medico Salsench, E, Howaidi, J, Ihinger, J, Karachunski, P, Begtrup, A, Segura Castell, M, Bauer, P, Bertoli-Avella, A, Kaya, IH, AlSufayan, J, AlQuait, L, Chedrawi, A, Arold, ST, Colak, D, Barakat, TS & Kaya, N 2020, 'Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy', Acta Neuropathologica, vol. 139, no. 4, pp. 791-794. https://doi.org/10.1007/s00401-020-02128-8

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

author = "Mohammed AlMuhaizea and Rawan AlMass and Aljouhra AlHargan and Anoud AlBader and {Medico Salsench}, Eva and Jude Howaidi and Jacie Ihinger and Peter Karachunski and Amber Begtrup and {Segura Castell}, Monica and Peter Bauer and Aida Bertoli-Avella and Kaya, {Ibrahim H.} and Jumanah AlSufayan and Laila AlQuait and Aziza Chedrawi and Arold, {Stefan T.} and Dilek Colak and Barakat, {Tahsin Stefan} and Namik Kaya",

note = "Funding Information: We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018. Funding Information: We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.",

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T1 - Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

AU - AlMuhaizea, Mohammed

AU - AlMass, Rawan

AU - AlHargan, Aljouhra

AU - AlBader, Anoud

AU - Medico Salsench, Eva

AU - Howaidi, Jude

AU - Ihinger, Jacie

AU - Karachunski, Peter

AU - Begtrup, Amber

AU - Segura Castell, Monica

AU - Bauer, Peter

AU - Bertoli-Avella, Aida

AU - Kaya, Ibrahim H.

AU - AlSufayan, Jumanah

AU - AlQuait, Laila

AU - Chedrawi, Aziza

AU - Arold, Stefan T.

AU - Colak, Dilek

AU - Barakat, Tahsin Stefan

AU - Kaya, Namik

N1 - Funding Information: We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018. Funding Information: We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

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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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