Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Autor: Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)

tRNAs are linked with their cognate amino acid by aminoacyl tRNA synthetases (ARS). Here, the authors report a developmental encephalopathy associated with biallelic VARS variants (valyl-tRNA synthetase) that lead to loss of function, as determined b

Externí odkaz: https://doaj.org/article/ea0d836e898d4bdc88b6a0d98d57ecd8

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Autor: Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer

Publikováno v: Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both mal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784

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

Auditory Cortex tACS and tRNS for Tinnitus: Single versus Multiple Sessions

Autor: Laura Claes, Hannah Stamberger, Paul Van de Heyning, Dirk De Ridder, Sven Vanneste

Publikováno v: Neural Plasticity, Vol 2014 (2014)

Tinnitus is the perception of a sound in the absence of an external acoustic source, which often exerts a significant impact on the quality of life. Currently there is evidence that neuroplastic changes in both neural pathways are involved in the gen

Externí odkaz: https://doaj.org/article/0917e818fcce4b1aadaf79ba0bd55a78

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Autor: Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M Sisodiya, Patrick Cossette, Chris Cotsapas, Peter DeJonghe, Tracy Dixon-Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis J Dlugos, Ingrid E Scheffer, Pasquale Striano, Catharine Freyer, Kevin McKenna, Brigid M Regan, Susannah T Bellows, Costin Leu, Caitlin A Bennett, Esther M C Johns, Alexandra Macdonald, Hannah Shilling, Rosemary Burgess, Dorien Weckhuysen, Melanie Bahlo, Terence J O'Brien, Marian Todaro, Hannah Stamberger, Danielle M Andrade, Tara R Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas S Papacostas, Ioanna Kousiappa, George A Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S Reif, Susanne Knake, Wolfram S Kunz, Gábor Zsurka, Christian E Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas vanBaalen, Sarah vonSpiczak, Ulrich Stephani, Zaid Afawi, Amos D Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller-Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R Lemke, Ilona Krey, Yvonne G Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F Maisch, Bernhard J Steinhoff, Andreas Schulze-Bonhage, Susanne Schubert-Bast, Herbert Schreiber, Ingo Borggräfe, Christoph J Schankin, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Dieter Dennig, Rene Madeleyn, Reetta Kälviäinen, Pia Auvinen, Anni Saarela, Tarja Linnankivi, Anna-Elina Lehesjoki, Mark I Rees, Seo-Kyung Chung, William O Pickrell, Robert Powell, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R Johnson, Pauls Auce, Graeme J Sills, Larry W Baum, Pak C Sham, Stacey S Cherny, Colin H T Lui, Nina Barišić, Norman Delanty, Colin P Doherty, Arif Shukralla, Mark McCormack, Hany El-Naggar, Laura Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Federico Zara, Michele Iacomino, Francesca Madia, Maria Stella Vari, Maria Margherita Mancardi, Vincenzo Salpietro, Francesca Bisulli, Paolo Tinuper, Laura Licchetta, Tommaso Pippucci, Carlotta Stipa, Raffaella Minardi, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carla Marini, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Birute Tumiene, Lynette G Sadleir, Chontelle King, Emily Mountier, Hande S Caglayan, Mutluay Arslan, Zuhal Yapıcı, Uluc Yis, Pınar Topaloglu, Bulent Kara, Dilsad Turkdogan, Aslı Gundogdu-Eken, Nerses Bebek, Sibel Uğur-İşeri, Betül Baykan, Barış Salman, Garen Haryanyan, Emrah Yücesan, Yeşim Kesim, Çiğdem Özkara, Annapurna Poduri, Beth R Shiedley, Catherine Shain, Russell J Buono, Thomas N Ferraro, Michael R Sperling, Warren Lo, Michael Privitera, Jacqueline A French, Steven Schachter, Ruben I Kuzniecky, Orrin Devinsky, Manu Hegde, Pouya Khankhanian, Katherine L Helbig, Colin A Ellis, Gianfranco Spalletta, Fabrizio Piras, Federica Piras, Tommaso Gili, Valentina Ciullo, Andreas Reif, Andrew McQuillin, Nick Bass, Andrew McIntosh, Douglas Blackwood, Mandy Johnstone, Aarno Palotie, Michele T Pato, Carlos N Pato, Evelyn J Bromet, Celia Barreto Carvalho, Eric D Achtyes, Maria Helena Azevedo, Roman Kotov, Douglas S Lehrer, Dolores Malaspina, Stephen R Marder, Helena Medeiros, Christopher P Morley, Diana O Perkins, Janet L Sobell, Peter F Buckley, Fabio Macciardi, Mark H Rapaport, James A Knowles, Genomic Psychiatry Cohort, Ayman H Fanous, Steven A McCarroll, Namrata Gupta, Stacey B Gabriel, Mark J Daly, Eric S Lander, Daniel H Lowenstein, David B Goldstein, Samuel F Berkovic, Benjamin M Neale

Publikováno v: EBioMedicine
EBioMedicine 72, 103588 (2021). doi:10.1016/j.ebiom.2021.103588
eBioMedicine, Amsterdam : Elsevier BV, 2021, vol. 72, art. no. 103588, p. [1-13]
EBioMedicine, Vol 72, Iss, Pp 103588-(2021)

EBioMedicine 72, 103588 (2021). doi:10.1016/j.ebiom.2021.103588
Published by Elsevier, Amsterdam [u.a.]

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fe35829e5d31e7bb47814575c43325
https://hdl.handle.net/10067/1861950151162165141