Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Marjan J. A. vanKempen"'
Autor:
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11
Externí odkaz:
https://doaj.org/article/aed334dc863943859f018af92b96be34
Autor:
Iris M. de Lange, Flip Mulder, Ruben van 'tSlot, Anja C. M. Sonsma, Marjan J. A. vanKempen, Isaac J. Nijman, Robert F. Ernst, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A‐related
Externí odkaz:
https://doaj.org/article/97de1f8e82f840b394c981f1155af6e1
Autor:
Iris M. deLange, Wout Weuring, Ruben van‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Mark McCormack, Carolien deKovel, Lisette J. J. M. vanGemert, Flip Mulder, Marjan J. A. vanKempen, Nine V. A. M. Knoers, Eva H. Brilstra, Bobby P. C. Koeleman
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce normal expression, l
Externí odkaz:
https://doaj.org/article/c087c69a8f024fe8a9240485ccb40916