ARF1-related disorder: phenotypic and molecular spectrum

Autor: Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille

PurposeARF1was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic

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https://mediatum.ub.tum.de/doc/1707433/document.pdf

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Autor: Zaid Afawi, Shekeeb S. Mohammad, Geoffrey Wallace, Ayelet Zerem, Amy L Schneider, Kyra E. Stuurman, Deepak Gill, Alison M. Muir, Russell C. Dale, Gali Heimer, Martino Montomoli, Elena Gardella, Emmanuelle Ranza, Simone Mandelstam, Peter Procopis, Øyvind L. Busk, Christian Korff, Arjan Bouman, Boudewijn Gunning, Connie T.R.M. Stumpel, Yunus Balcik, Christa de Geus, Philipp S. Reif, Yue-Hua Zhang, Sameer M. Zuberi, Volodymyr Kharytonov, Sébastien Küry, Patrick Edery, Sebastien Moutton, Trine Bjørg Hammer, Hannah Stamberger, Joseph D. Symonds, Gaetan Lesca, Samuel F. Berkovic, Massimiliano Rossi, Danique R.M. Vlaskamp, Eric W. Klee, Mark T Mackay, Felix Rosenow, Erica L. Macke, Chirag Patel, Jacob Bie Granild-Jensen, Helenius J. Schelhaas, Danielle M. Andrade, Lynette G. Sadleir, Iris M de Lange, Roseline Caumes, Eva Morava, Frédéric Tran Mau-Them, Anita Cairns, Keren Yosovich, Jing Zhang, Bruria Ben Zeev, Nicolas Chatron, Dorit Lev, Laura Reed, Pauline Monin, Eva H. Brilstra, Birgitte Bertelsen, Georgie Hollingsworth, Nienke E. Verbeek, Heather C Mefford, Rikke S. Møller, Johan R. Helle, Christina Fenger, Meriel McEntagart, Thomas Smol, Mark F. Bennett, Yuri A. Zarate, Renzo Guerrini, Elena Parrini, Candace T. Myers, Judith S. Verhoeven, Bertrand Isidor, Ruth Shalev, David A. Koolen, Ingrid E. Scheffer, Bobby P. C. Koeleman, Lauren Gunderson, Michael S. Hildebrand, Tara Sadoway, Richard J. Leventer, Sanjay M. Sisodiya, Krati Shah, Edith P. Almanza Fuerte

Publikováno v: Genetics in Medicine, 23(2), 363-373. Nature Publishing Group
Genetics in Medicine, 23, 2, pp. 363-373
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers, C T, Fenger, C, Afawi, Z, Almanza Fuerte, E P, Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C, de Geus, C, Edery, P, Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman, B P C, Koolen, D A, Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C, Patel, C, Zhang, Y-H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in Medicine, 23(2), 363-373. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 363-373

Contains fulltext : 231688.pdf (Publisher’s version ) (Closed access) PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), autism spectrum disorder, and epilepsy. We aimed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8c8c6faa9e2b5a65e17855559602f1
https://doi.org/10.1038/s41436-020-00988-9

Modifier genes in SCN1A‐related epilepsy syndromes

Autor: Bobby P. C. Koeleman, Iris M de Lange, Ruben van 't Slot, Nine V A M Knoers, Marjan J. A. van Kempen, Eva H. Brilstra, Robert F Ernst, Isaac J. Nijman, Flip Mulder, Anja C M Sonsma

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 8(4):1103. Wiley
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)

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 phenotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75ebb5d0e02189a795fd45d7397812db
http://europepmc.org/articles/PMC7196470

Assessment of parental mosaicism in

Autor: Iris M, de Lange, Marco J, Koudijs, Ruben, van 't Slot, Anja C M, Sonsma, Flip, Mulder, Ellen C, Carbo, Marjan J A, van Kempen, Isaac J, Nijman, Robert F, Ernst, Sanne M C, Savelberg, Nine V A M, Knoers, Eva H, Brilstra, Bobby P C, Koeleman

Publikováno v: Journal of medical genetics. 56(2)

Dravet syndrome is a severe genetic encephalopathy, caused by pathogenic variants inDeep sequencing ofSequence coverage of at least 100× at the location of the corresponding pathogenic variant was reached for 80 parent couples. The variant ratio was

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https://pubmed.ncbi.nlm.nih.gov/30368457

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

Autor: Ruben van 't Slot, Boudewijn Gunning, Lisette J. J. M. van Gemert, Flip Mulder, Bobby P. C. Koeleman, Ellen C Carbo, Iris M de Lange, Anja C M Sonsma, Robert F Ernst, Isaac J. Nijman, Nienke E. Verbeek, Nine V A M Knoers, Marjan J. A. van Kempen, Eva H. Brilstra, Sanne M C Savelberg, Marco J. Koudijs

Publikováno v: Epilepsia, 59(3), 690. Wiley-Blackwell

Objective: Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. The most important determinant of disease s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e24af43a55a9e70ced7e04502bd82ce
https://dspace.library.uu.nl/handle/1874/372257