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Autor:
Jacek Majewski, Nanda M. Verhoeven-Duif, Wyeth W. Wasserman, Ido P. Kema, Yoko Ito, Laufey Yr Sigurdardottir, Georgianne L. Arnold, Erica H. Gerkes, Megan T. Cho, Izabella A. Pena, Tuan Bui, Clara D.M. van Karnebeek, Scott Demarest, Ron A. Wevers, Amna Al Futaisi, Matthew A. Lines, Colin J. D. Ross, Ronald J.A. Wanders, Sander M. Houten, M. Rebecca Heiner-Fokkema, Sara Violante, Nicole I. Wolf, Jan M. Friedman, Heather E. Olson, Kevin Ban, Hilal H. Al-Shekaili, Autumn S Ivy, David A. Koolen, Judith J.M. Jans, Elise Brimble, Kristin D. Kernohan, Erik-Jan Kamsteeg, Carlo W.T. van Roermund, Skye McBride, Kym M. Boycott, Devon L. Johnstone, Sandra Noble, Rana Abdelrahim, Yann Roussel, Roshan Koul, Britt I. Drögemöller, Nathalie Lepage, Maartje Boon, Marjolein Bosma, Amber Begtrup, Khalid Al-Thihli, Jolita Ciapaite, Ceres Kosuta, Maja Tarailo-Graovac, Martijn van Faassen, Charlotte A. Haaxma, Marc Ekker, David A. Dyment
Publikováno v:
Brain, 142, 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Brain, 142, 542-559. Oxford University Press
Brain : a journal of neurology, 142(3), 542. Oxford University Press
Brain, 142, 3, pp. 542-559
Contains fulltext : 202680.pdf (Publisher’s version ) (Closed access) Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of wh