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 Berdowski; M Alsagob; I Capo; Herma Linde; Paul Berg; EH Jacobs; D Putar; Mehrnaz Ghazvini; Wilfred Ijcken; Walter Valk; Marjon Slegtenhorst; Evita Herik; Alice Brooks; Tjakko Ham; Stefan Barakat

doi:10.1007/s00401-019-02109-6

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 Berdowski, M Alsagob, I Capo, Herma Linde, Paul Berg, EH Jacobs, D Putar, Mehrnaz Ghazvini, Wilfred Ijcken, Walter Valk, Marjon Slegtenhorst, Evita Herik, Alice Brooks, Tjakko Ham, Stefan Barakat

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

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Original language	Undefined/Unknown
Pages (from-to)	415-442
Number of pages	28
Journal	Acta Neuropathologica
Volume	139
Issue number	3
DOIs	https://doi.org/10.1007/s00401-019-02109-6
Publication status	Published - 2020

Research programs

EMC COEUR-09
EMC MGC-02-13-02
EMC OR-01

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10.1007/s00401-019-02109-6

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Cite this

Perenthaler, E., Nikoncuk, A., Yousefi, S., Berdowski, W., Alsagob, M., Capo, I., Linde, H., Berg, P., Jacobs, EH., Putar, D., Ghazvini, M., Ijcken, W., Valk, W., Slegtenhorst, M., Herik, E., Brooks, A., Ham, T., & Barakat, S. (2020). 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. Acta Neuropathologica, 139(3), 415-442. https://doi.org/10.1007/s00401-019-02109-6

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author = "Elena Perenthaler and Anita Nikoncuk and Soheil Yousefi and Woutje Berdowski and M Alsagob and I Capo and Herma Linde and Paul Berg and EH Jacobs and D Putar and Mehrnaz Ghazvini and Wilfred Ijcken and Walter Valk and Marjon Slegtenhorst and Evita Herik and Alice Brooks and Tjakko Ham and Stefan Barakat",

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Perenthaler, E, Nikoncuk, A, Yousefi, S, Berdowski, W, Alsagob, M, Capo, I, Linde, H , Berg, P , Jacobs, EH, Putar, D, Ghazvini, M, Ijcken, W, Valk, W, Slegtenhorst, M , Herik, E , Brooks, A , Ham, T & Barakat, S 2020, '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', Acta Neuropathologica, vol. 139, no. 3, pp. 415-442. https://doi.org/10.1007/s00401-019-02109-6

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. / Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil et al.
In: Acta Neuropathologica, Vol. 139, No. 3, 2020, p. 415-442.

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

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AU - Yousefi, Soheil

AU - Berdowski, Woutje

AU - Alsagob, M

AU - Capo, I

AU - Linde, Herma

AU - Berg, Paul

AU - Jacobs, EH

AU - Putar, D

AU - Ghazvini, Mehrnaz

AU - Ijcken, Wilfred

AU - Valk, Walter

AU - Slegtenhorst, Marjon

AU - Herik, Evita

AU - Brooks, Alice

AU - Ham, Tjakko

AU - Barakat, Stefan

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