PMC Articles for MedGen (Select 815503) - PMC

Christelle Durrant, Jana I. Fuehring, Alexandra Willemetz, Dominique Chrétien, Giusy Sala, Riccardo Ghidoni, Abram Katz, Agnès Rötig, Monica Thelestam, Myriam Ermonval, Stuart E. H. Moore

Int J Mol Sci. 2020 Mar; 21(6): 2028. Published online 2020 Mar 16. doi: 10.3390/ijms21062028

PMCID:: PMC7139386

Abstract Article PDF–3.6M

Select item 70427705.

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

Ida E Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek P Hibar, Sandra Martin-Brevet, Abdel Abdellaoui, David Ames, Katrin Amunts, Michael Andersson, Nicola J Armstrong, Manon Bernard, Nicholas Blackburn, John Blangero, Dorret I Boomsma, Janita Bralten, Hans-Richard Brattbak, Henry Brodaty, Rachel M Brouwer, Robin Bülow, Vince Calhoun, Svenja Caspers, Gianpiero Cavalleri, Chi-Hua Chen, Sven Cichon, Simone Ciufolini, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Anders M Dale, Shareefa Dalvie, Paola Dazzan, Eco J C de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Norman Delanty, Anouk den Braber, Sylvane Desrivières, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Thomas Espeseth, Simon E Fisher, Barbara Franke, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, David C Glahn, Hans Grabe, Nynke A. Groenewold, Jan Haavik, Asta Håberg, Ryota Hashimoto, Jayne Y Hehir-Kwa, Andreas Heinz, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Jouke-Jan Hottenga, Hilleke E Hulshoff, Masashi Ikeda, Neda Jahanshad, Terry Jernigan, Christiane Jockwitz, Stefan Johansson, Gudrun A Jonsdottir, Erik G Jönsson, Rene Kahn, Tobias Kaufmann, Sinead Kelly, Masataka Kikuchi, Emma E M Knowles, Knut K Kolskår, John B Kwok, Stephanie Le Hellard, Costin Leu, Jingyu Liu, Astri J Lundervold, Arvid Lundervold, Nicholas G. Martin, Karen Mather, Samuel R. Mathias, Mark McCormack, Katie L. McMahon, Allan McRae, Yuri Milaneschi, Clara Moreau, Derek Morris, David Mothersill, Thomas W Mühleisen, Robin Murray, Jan E Nordvik, Lars Nyberg, Loes M Olde Loohuis, Roel Ophoff, Tomas Paus, Zdenka Pausova, Brenda Penninx, Juan M Peralta, Bruce Pike, Carlos Prieto, Sara Pudas, Erin Quinlan, Daniel S Quintana, Céline S Reinbold, Tiago Reis Marques, Alexandre Reymond, Genevieve Richard, Borja Rodriguez-Herreros, Roberto Roiz-Santiañez, Jarek Rokicki, James Rucker, Perminder Sachdev, Anne-Marthe Sanders, Sigrid B Sando, Lianne Schmaal, Peter R Schofield, Andrew J. Schork, Gunter Schumann, Jean Shin, Elena Shumskaya, Sanjay Sisodiya, Vidar M Steen, Dan J Stein, Stacy Steinberg, Lachlan Strike, Alexander Teumer, Anbu Thalamuthu, Diana Tordesillas-Gutierrez, Jessica Turner, Torill Ueland, Anne Uhlmann, Magnus O. Ulfarsson, Dennis van ’t Ent, Dennis van der Meer, Neeltje E. M. van Haren, Anja Vaskinn, Evangelos Vassos, G. Bragi Walters, Yunpeng Wang, Wei Wen, Christopher D Whelan, Katharina Wittfeld, Margie Wright, Hidenaga Yamamori, Tetyana Zayats, Ingrid Agartz, Lars T Westlye, Sébastien Jacquemont, Srdjan Djurovic, Hreinn Stefánsson, Kári Stefánsson, Paul Thompson, Ole A. Andreassen, for the 16p11.2 European Consortium, for the ENIGMA-CNV working group

Mol Psychiatry. 2020; 25(3): 584–602. Published online 2018 Oct 3. doi: 10.1038/s41380-018-0118-1

Correction in:: Mol Psychiatry. 2020; 25(3): 692–695.

PMCID:: PMC7042770

Abstract Article PDF–1.4M

Select item 68750006.

Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation

Ting Hu, Zhu Zhang, Jiamin Wang, Qinqin Li, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu

Biomed Res Int. 2019; 2019: 9352581. Published online 2019 Nov 6. doi: 10.1155/2019/9352581

PMCID:: PMC6875000

Abstract Article PDF–1.0M

Select item 68545957.

Early-onset epilepsy and microcephaly-capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy

Fangrui Wu, Ying Dai, Juan Wang, Min Cheng, Yanqin Wang, Xiujuan Li, Ping Yuan, Shuang Liao, Li Jiang, Jin Chen, Lisi Yan, Min Zhong

Mol Med Rep. 2019 Dec; 20(6): 5145–5151. Published online 2019 Oct 17. doi: 10.3892/mmr.2019.10757

PMCID:: PMC6854595

Abstract Article PDF–612K

Select item 67725148.

The Flathead Mutation Causes CNS-Specific Developmental Abnormalities and Apoptosis

Melanie R. Roberts, Kevin Bittman, Wei-Wei Li, Richard French, Bartley Mitchell, Joseph J. LoTurco, Santosh R. D'Mello

J Neurosci. 2000 Mar 15; 20(6): 2295–2306. doi: 10.1523/JNEUROSCI.20-06-02295.2000

PMCID:: PMC6772514

Abstract Article PDF–1003K

Select item 67522979.

Cyril Mignot, Aoife C. McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnerias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth J. Donner, Bénédicte Duban-Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin-Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminska, Boris Keren, Marije Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanovic, Julia Métreau, Jacques L. Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie-Laure Moutard, Arnold Munnich, Xilma R. Ortiz-Gonzalez, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quelin, Alyssa R. Rosen, Joelle Roume, Elsa Rossignol, Marleen E. H. Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel P. Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby Koeleman, Rikke S. Møller, Gaetan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne

Genet Med. 2019; 21(4): 837–849. Published online 2018 Sep 12. doi: 10.1038/s41436-018-0268-1

Correction in:: Genet Med. 2019; 21(8): 1897–1898.

PMCID:: PMC6752297

Abstract Article PDF–1.0M

Select item 737950310.

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

Hannah Hayhurst, Maria‐Eleni Anagnostou, Helen J. Bogle, John P. Grady, Robert W. Taylor, Laurence A. Bindoff, Robert McFarland, Doug M. Turnbull, Nichola Z. Lax

Brain Pathol. 2019 Jan; 29(1): 97–113. Published online 2018 Oct 9. doi: 10.1111/bpa.12640

PMCID:: PMC7379503

Abstract Article PDF–1.3M

Select item 660086811.

A novel de novo STXBP1 mutation causes mitochondrial complex I deficiency and late onset juvenile onset parkinsonism

MJ Keogh, D Daud, A Pyle, H Steele, J Duff, H Griffin, S Taggart, AP Basu, R Taylor, R Horvath, V Ramesh, PF Chinnery

Neurogenetics. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Neurogenetics. 2015 Jan 1; 16(1): 65–67. Published online 2014 Nov 25. doi: 10.1007/s10048-014-0431-z

PMCID:: PMC6600868

Article PDF–596K

Select item 658226312.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Alastair H. MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J. Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark Corbett, Xiaoyang Wang, Gareth Baynam, Darcy Fehlings, Manju A. Kurian, Changlian Zhu, Kate Himmelmann, Hayley Smithers-Sheedy, Yana Wilson, Carlos Santos Ocaña, Clare van Eyk, Nadia Badawi, Richard F. Wintle, Bo Jacobsson, David J. Amor, Carina Mallard, Luis A. Pérez-Jurado, Mikko Hallman, Peter J. Rosenbaum, Michael C. Kruer, Jozef Gecz

J Child Neurol. 2019 Jul; 34(8): 472–476. Published online 2019 Apr 9. doi: 10.1177/0883073819840449

PMCID:: PMC6582263

Abstract Article PDF–199K

Select item 654055413.

TRPV1 mediates astrocyte activation and interleukin-1β release induced by hypoxic ischemia (HI)

Xing-Liang Yang, Xin Wang, Lin Shao, Guang-Tong Jiang, Jia-Wei Min, Xi-Yu Mei, Xiao-Hua He, Wan-Hong Liu, Wen-Xian Huang, Bi-Wen Peng

J Neuroinflammation. 2019; 16: 114. Published online 2019 May 29. doi: 10.1186/s12974-019-1487-3

PMCID:: PMC6540554

Abstract Article PDF–4.8M

Select item 651110214.

Clinical spectrum of STX1B-related epileptic disorders

Stefan Wolking, Patrick May, Davide Mei, Rikke S. Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr, Peter Widdess-Walsh, Bryce A. Mendelsohn, Adam Numis, Maria R. Cilio, Wim Van Paesschen, Lene L. Svendsen, Stephanie Oates, Elaine Hughes, Sushma Goyal, Kathleen Brown, Margarita Sifuentes Saenz, Thomas Dorn, Hiltrud Muhle, Alistair T. Pagnamenta, Dimitris V. Vavoulis, Samantha J.L. Knight, Jenny C. Taylor, Maria Paola Canevini, Francesca Darra, Ralitza H. Gavrilova, Zöe Powis, Shan Tang, Justus Marquetand, Martin Armstrong, Duncan McHale, Eric W. Klee, Gerhard J. Kluger, Daniel H. Lowenstein, Sarah Weckhuysen, Deb K. Pal, Ingo Helbig, Renzo Guerrini, Rhys H. Thomas, Mark I. Rees, Gaetan Lesca, Sanjay M. Sisodiya, Yvonne G. Weber, Dennis Lal, Carla Marini, Holger Lerche, Julian Schubert

Neurology. 2019 Mar 12; 92(11): e1238–e1249. doi: 10.1212/WNL.0000000000007089

PMCID:: PMC6511102

Abstract Article PDF–648K

Select item 646056815.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

Sorina M. Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, Tobias Iff, Thomas Schmitt-Mechelke, Karoline Otten, Annette Hackenberg, Marie-Claude Addor, Andrea Klein, Silvia Azzarello-Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch

Eur J Hum Genet. 2019 Mar; 27(3): 408–421. Published online 2018 Dec 14. doi: 10.1038/s41431-018-0299-8

PMCID:: PMC6460568

Abstract Article PDF–2.1M

Select item 633286216.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

BMC Med Genet. 2019; 20: 16. Published online 2019 Jan 14. doi: 10.1186/s12881-019-0745-7

PMCID:: PMC6332862

Abstract Article PDF–1.6M

Select item 632360917.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda H. Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather Mclaughlin, Roger Ladda, Susan Sell, Marjolein Kriek, Cacha M.P.C.D. Peeters-Scholte, Paulien A. Terhal, Koen L. van Gassen, Nienke Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revencu, Carlos R. Ferreira, Ellen Macnamara, Hilde M.H. Braakman, Elise Brimble, Maura R.Z. Ruznikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

Am J Hum Genet. 2019 Jan 3; 104(1): 139–156. Published online 2018 Dec 27. doi: 10.1016/j.ajhg.2018.12.002

Correction in:: Am J Hum Genet. 2019 Feb 7; 104(2): 357.

PMCID:: PMC6323609

Abstract Article PDF–1.8M

Select item 629688218.

Early Infantile Onset Epileptic Encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Mariska Davids, Thomas Markello, Lynne A. Wolfe, Xenia Chepa-Lotrea, Cynthia J. Tifft, William A. Gahl, May Christine Malicdan

Hum Mutat. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Hum Mutat. 2019 Jan; 40(1): 42–47. Published online 2018 Nov 18. doi: 10.1002/humu.23675

PMCID:: PMC6296882

Abstract Article PDF–1.0M

Select item 753658119.

Peter D. Galer, Shiva Ganesan, David Lewis-Smith, Sarah E. McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Rhys H. Thomas, Roland Krause, Yvonne Weber, Ingo Helbig

Am J Hum Genet. 2020 Oct 1; 107(4): 683–697. Published online 2020 Aug 26. doi: 10.1016/j.ajhg.2020.08.003

PMCID:: PMC7536581

Abstract Article PDF–3.2M

Select item 768039920.

Functional analysis of three Na_v1.6 mutations causing Early Infantile Epileptic Encephalopathy

Laura Solé, Jacy L. Wagnon, Michael M. Tamkun

Biochim Biophys Acta Mol Basis Dis. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2020 Dec 1; 1866(12): 165959. Published online 2020 Sep 8. doi: 10.1016/j.bbadis.2020.165959

PMCID:: PMC7680399

Abstract Article PDF–2.2M

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