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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Ivan Capo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F.J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcova, Faisal Zafar, Nuzhat Rana, Krishna K. Kandaswamy, Jozef Hertecant, Peter Bauer, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli-Avella, Reza Maroofian, Kyle Retterer, Alice S. Brooks, Tjakko J. van Ham, View ORCID ProfileTahsin Stefan Barakat
doi: https://doi.org/10.1101/799841
Elena Perenthaler
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Anita Nikoncuk
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Soheil Yousefi
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Woutje M. Berdowski
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Ivan Capo
2Department for Histology and Embryology, Faculty of Medicine Novi Sad, University of Novi Sad, Serbia
Herma C. van der Linde
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Paul van den Berg
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Edwin H. Jacobs
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Darija Putar
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Mehrnaz Ghazvini
3iPS cell core facility, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Eleonora Aronica
4Amsterdam UMC, University of Amsterdam, Department of (Neuro)pathology, Amsterdam, Amsterdam Neuroscience, The Netherlands
5Stichting Epilepsie Instellingen Nederland (SEIN), The Netherlands
Wilfred F.J. van IJcken
6Center for Biomics, Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Walter G. de Valk
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Evita Medici-van den Herik
7Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Marjon van Slegtenhorst
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Lauren Brick
8Division of Genetics, McMaster Children’s Hospital, Hamilton, Ontario, L8S 4J9, Canada
Mariya Kozenko
8Division of Genetics, McMaster Children’s Hospital, Hamilton, Ontario, L8S 4J9, Canada
Jennefer N. Kohler
9Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, 94035, USA
Jonathan A. Bernstein
10Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA 94035, USA
Kristin G. Monaghan
11GeneDx, Gaithersburg, MD, 20877, USA
Amber Begtrup
11GeneDx, Gaithersburg, MD, 20877, USA
Rebecca Torene
11GeneDx, Gaithersburg, MD, 20877, USA
Amna Al Futaisi
12Department of Child health, college of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman
Fathiya Al Murshedi
13Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman
Renjith Mani
12Department of Child health, college of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman
Faisal Al Azri
14Department of Radiology and molecular imaging, Sultan Qaboos University Hospital, Muscat, Oman
Erik-Jan Kamsteeg
15Department of Clinical Genetics, Radboud University, Nijmegen, The Netherlands
Majid Mojarrad
16Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
17Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
18Genetic Center of Khorasan Razavi, Mashhad, Iran
Atieh Eslahi
16Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
19Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Zaynab Khazaei
20Genetic Counseling Center, Welfare Organization of Sistan and Baluchestan, Zahedan, Iran
Fateme Massinaei Darmiyan
20Genetic Counseling Center, Welfare Organization of Sistan and Baluchestan, Zahedan, Iran
Mohammad Doosti
21Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
Ehsan Ghayoor Karimiani
22Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George’s, University, London, SW17 ORE, United Kingdom
Jana Vandrovcova
23Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
Faisal Zafar
24Department of Paediatric Neurology, Children’s hospital and institute of Child health, Multan 60000, Pakistan
Nuzhat Rana
24Department of Paediatric Neurology, Children’s hospital and institute of Child health, Multan 60000, Pakistan
Krishna K. Kandaswamy
25CENTOGENE AG, Rostock, Germany
Jozef Hertecant
26Department of Pediatrics, Tawam Hospital, and College of Medicine and Health Sciences, UAE University, Al-Ain, UAE
Peter Bauer
25CENTOGENE AG, Rostock, Germany
Stephanie Efthymiou
23Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
Henry Houlden
23Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
Aida M. Bertoli-Avella
25CENTOGENE AG, Rostock, Germany
Reza Maroofian
23Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom
Kyle Retterer
11GeneDx, Gaithersburg, MD, 20877, USA
Alice S. Brooks
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Tjakko J. van Ham
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Tahsin Stefan Barakat
1Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands
Article usage
Posted October 10, 2019.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Ivan Capo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F.J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcova, Faisal Zafar, Nuzhat Rana, Krishna K. Kandaswamy, Jozef Hertecant, Peter Bauer, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli-Avella, Reza Maroofian, Kyle Retterer, Alice S. Brooks, Tjakko J. van Ham, Tahsin Stefan Barakat
bioRxiv 799841; doi: https://doi.org/10.1101/799841
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Ivan Capo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F.J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, Marjon van Slegtenhorst, Lauren Brick, Mariya Kozenko, Jennefer N. Kohler, Jonathan A. Bernstein, Kristin G. Monaghan, Amber Begtrup, Rebecca Torene, Amna Al Futaisi, Fathiya Al Murshedi, Renjith Mani, Faisal Al Azri, Erik-Jan Kamsteeg, Majid Mojarrad, Atieh Eslahi, Zaynab Khazaei, Fateme Massinaei Darmiyan, Mohammad Doosti, Ehsan Ghayoor Karimiani, Jana Vandrovcova, Faisal Zafar, Nuzhat Rana, Krishna K. Kandaswamy, Jozef Hertecant, Peter Bauer, Stephanie Efthymiou, Henry Houlden, Aida M. Bertoli-Avella, Reza Maroofian, Kyle Retterer, Alice S. Brooks, Tjakko J. van Ham, Tahsin Stefan Barakat
bioRxiv 799841; doi: https://doi.org/10.1101/799841
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