X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3
Sun, Jia-Hui, Chen, Jiang, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone
Published in PLoS genetics (23.06.2021)
Published in PLoS genetics (23.06.2021)
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Journal Article
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Published in Molecules (Basel, Switzerland) (22.06.2023)
Published in Molecules (Basel, Switzerland) (22.06.2023)
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Journal Article
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders
Lewis, Sara A, Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R, Kruer, Michael C
Published in Disease models & mechanisms (01.09.2023)
Published in Disease models & mechanisms (01.09.2023)
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Journal Article
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H. G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, Møller, Rikke S.
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Journal Article
An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal
Omelková, Michaela, Fenger, Christina Dühring, Murray, Marta, Hammer, Trine Bjørg, Pravata, Veronica M, Bartual, Sergio Galan, Czajewski, Ignacy, Bayat, Allan, Ferenbach, Andrew T, Stavridis, Marios P, van Aalten, Daan M F
Published in Disease models & mechanisms (01.06.2023)
Published in Disease models & mechanisms (01.06.2023)
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Journal Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Journal Article
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Bayat, Allan, Pendziwiat, Manuela, Obersztyn, Ewa, Goldenberg, Paula, Zacher, Pia, Döring, Jan Henje, Syrbe, Steffen, Begtrup, Amber, Borovikov, Artem, Sharkov, Artem, Karasińska, Aneta, Giżewska, Maria, Mitchell, Wendy, Morava, Eva, Møller, Rikke S., Rubboli, Guido
Published in Frontiers in genetics (11.05.2021)
Published in Frontiers in genetics (11.05.2021)
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Journal Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Buijsse, Nathan, Jansen, Floor E, Ockeloen, Charlotte W, van Kempen, Marjan J A, Zeidler, Shimriet, Willemsen, Marjolein H, Scarano, Emanuela, Monticone, Sonia, Zonneveld-Huijssoon, Evelien, Low, Karen J, Bayat, Allan, Sisodiya, Sanjay M, Samanta, Debopam, Lesca, Gaetan, de Jong, Danielle, Giltay, Jaqcues C, Verbeek, Nienke E, Kleefstra, Tjitske, Brilstra, Eva H, Vlaskamp, Danique R M
Published in Epilepsia open (01.12.2023)
Published in Epilepsia open (01.12.2023)
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Journal Article
Atypical painful stroke presentations: A review
Bayat, Michael, Bayat, Allan, Blauenfeldt, Rolf A.
Published in Acta neurologica Scandinavica (01.11.2022)
Published in Acta neurologica Scandinavica (01.11.2022)
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Journal Article
POLG-related mitochondrial disease mimicking autoimmune encephalitis
Bayat, Michael, Harbo, Thomas, Anzabi, Maryam, Bayat, Allan, Thomsen, Jan Lykke Scheel
Published in Journal of neurology (01.10.2024)
Published in Journal of neurology (01.10.2024)
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Journal Article
Solving the unsolved genetic epilepsies: Current and future perspectives
Johannesen, Katrine M., Tümer, Zeynep, Weckhuysen, Sarah, Barakat, Tahsin Stefan, Bayat, Allan
Published in Epilepsia (Copenhagen) (01.12.2023)
Published in Epilepsia (Copenhagen) (01.12.2023)
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Journal Article