PMC Articles for MedGen (Select 1648381) - PMC

Select item 109526341.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer

Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542

PMCID:: PMC10952634

Abstract Article PDF–6.2M

Select item 107136152.

Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability

Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir

Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w

PMCID:: PMC10713615

Abstract Article PDF–1.8M

Select item 105619103.

Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy

Savaş Bariş, Serkan Kırık, Özgür Balasar

Rev Assoc Med Bras (1992) 2023; 69(10): e20230547. Published online 2023 Oct 9. doi: 10.1590/1806-9282.20230547

PMCID:: PMC10561910

Abstract Article PDF–227K

Select item 103599574.

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

Hyun Yong Koh, Lacey Smith, Kimberly N. Wiltrout, Archana Podury, Nitish Chourasia, Alissa M. D’Gama, Meredith Park, Devon Knight, Emma L. Sexton, Julia J. Koh, Brandon Oby, Rebecca Pinsky, Diane D. Shao, Courtney E. French, Wanqing Shao, Shira Rockowitz, Piotr Sliz, Bo Zhang, Sonal Mahida, Christelle Moufawad El Achkar, Christopher J. Yuskaitis, Heather E. Olson, Beth Rosen Sheidley, Annapurna H. Poduri

JAMA Netw Open. 2023 Jul; 6(7): e2324380. Published online 2023 Jul 20. doi: 10.1001/jamanetworkopen.2023.24380

PMCID:: PMC10359957

Abstract Article

Select item 99613995.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P. L. Marsh, Martin W. Breuss, Laurel L. Ball, Camila Araújo Bernardino Garcia, Renee D. George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely N. James, Valentina Stanley, Anna S. Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan Wang, Se Hoon Kim, Hoon-Chul Kang, Andreas Schulze-Bonhage, Carola A. Haas, Horst Urbach, Marco Prinz, David D. Limbrick, Jr., Christina A. Gurnett, Matthew D. Smyth, Shifteh Sattar, Mark Nespeca, David D. Gonda, Katsumi Imai, Yukitoshi Takahashi, Hsin-Hung Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson A. Silva, Jr, Helio R. Machado, Gary W. Mathern, Alexej Abyzov, Sara Baldassari, Stéphanie Baulac, Focal Cortical Dysplasia Neurogenetics Consortium, Brain Somatic Mosaicism Network, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Nat Genet. 2023 Feb; 55(2): 209–220. Published online 2023 Jan 12. doi: 10.1038/s41588-022-01276-9

PMCID:: PMC9961399

Abstract Article PDF–7.5M

Select item 96791676.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela-Adela Vintan, Joseph Symonds, James Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaetan Lesca, Stewart MacLeod, Dragan Marjanovic, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Perez-Palma, M Scott Perry, Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal, Rikke S Møller, Massimo Mantegazza, Sandrine Cestèle

Brain. 2022 Nov; 145(11): 3816–3831. Published online 2022 Jun 13. doi: 10.1093/brain/awac210

PMCID:: PMC9679167

Abstract Article PDF–1.3M

Select item 87198477.

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study

Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, Shida Zhu, Feiqiu Wen, Jian Guo

Brain. 2021 Dec; 144(12): 3623–3634. Published online 2021 Jun 19. doi: 10.1093/brain/awab233

PMCID:: PMC8719847

Abstract Article PDF–514K

Select item 85470318.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures

Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga

Mol Autism. 2021; 12: 69. Published online 2021 Oct 26. doi: 10.1186/s13229-021-00473-3

PMCID:: PMC8547031

Abstract Article PDF–1.1M

Select item 74231639.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, EIMFS consortium, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Ann Neurol. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Ann Neurol. 2019 Dec; 86(6): 821–831. doi: 10.1002/ana.25619

Correction in:: Ann Neurol. 2020 Apr; 87(4): 658.

PMCID:: PMC7423163

Abstract Article PDF–320K

Select item 725457810.

Perinatal Distress in 1p36 Deletion Syndrome can Mimic Hypoxic Ischemic Encephalopathy

Lauren B. Carter, Agatino Battaglia, Athena Cherry, Melanie A. Manning, Maura RZ Ruzhnikov, Lynne M. Bird, Leah Dowsett, John M. Graham, Jr., Fowzan S. Alkuraya, Mais Hashem, Mary Beth Dinulos, Stephanie Vallee, Margaret P. Adam, Ian Glass, Anita E. Beck, Cathy A. Stevens, Elaine Zackai, Carey McDougall, Beth Keena, Angela Peron, Aglaia Vignoli, Laurie H. Seaver, Thomas P. Slavin, Louanne Hudgins

Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Am J Med Genet A. 2019 Aug; 179(8): 1543–1546. Published online 2019 Jun 17. doi: 10.1002/ajmg.a.61266

PMCID:: PMC7254578

Abstract Article PDF–53K

Select item 719850311.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kristy L. Kolc, Lynette G. Sadleir, Christel Depienne, Carla Marini, Ingrid E. Scheffer, Rikke S. Møller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gecz

Transl Psychiatry. 2020; 10: 127. Published online 2020 May 4. doi: 10.1038/s41398-020-0803-0

PMCID:: PMC7198503

Abstract Article PDF–1.3M

Select item 688444212.

Germline de novo variants in CSNK2B in Chinese patients with epilepsy

Jinliang Li, Kai Gao, Shuying Cai, Yin Liu, Yuzhen Wang, Shaoping Huang, Jian Zha, Wenjing Hu, Shujie Yu, Zhixian Yang, Han Xie, Huifang Yan, Jingmin Wang, Ye Wu, Yuwu Jiang

Sci Rep. 2019; 9: 17909. Published online 2019 Nov 29. doi: 10.1038/s41598-019-53484-9

PMCID:: PMC6884442

Abstract Article PDF–1.6M

Select item 632360913.

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 593275514.

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman

Orphanet J Rare Dis. 2018; 13: 71. Published online 2018 May 2. doi: 10.1186/s13023-018-0812-8

PMCID:: PMC5932755

Abstract Article PDF–954K

Select item 584322215.

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

Anne T. Berg, Samya Chakravorty, Sookyong Koh, Zachary M. Grinspan, Renée A. Shellhaas, Russell P. Saneto, Elaine C. Wirrell, Jason Coryell, Catherine J. Chu, John R. Mytinger, William D. Gaillard, Ignacio Valencia, Kelly G. Knupp, Tobias Loddenkemper, Joseph E. Sullivan, Annapurna Poduri, John J. Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B. Dobyns, Madhuri Hegde

PLoS One. 2018; 13(3): e0193599. Published online 2018 Mar 8. doi: 10.1371/journal.pone.0193599

PMCID:: PMC5843222

Abstract Article PDF–5.0M

Select item 422575716.

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Rima Nabbout, Nicole Chemaly, Mathilde Chipaux, Giulia Barcia, Charles Bouis, Celia Dubouch, Dorothee Leunen, Isabelle Jambaqué, Olivier Dulac, Georges Dellatolas, Catherine Chiron

Orphanet J Rare Dis. 2013; 8: 176. Published online 2013 Nov 13. doi: 10.1186/1750-1172-8-176

PMCID:: PMC4225757

Abstract Article PDF–562K

Select item 412481917.

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

Mark Estacion, Janelle E. O’Brien, Allison Conravey, Michael F. Hammer, Stephen G. Waxman, Sulayman D. Dib-Hajj, Miriam H. Meisler

Neurobiol Dis. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Neurobiol Dis. 2014 Sep; 69: 117–123. Published online 2014 May 27. doi: 10.1016/j.nbd.2014.05.017

PMCID:: PMC4124819

Abstract Article PDF–785K

Select item 374782418.

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

Domenica Battaglia, Yu-Wen Lin, Claudia Brogna, Antonino Crinò, Valeria Grasso, Alessia F Mozzi, Lucia Russo, Sabrina Spera, Carlo Colombo, Stefano Ricci, Colin G Nichols, Eugenio Mercuri, Fabrizio Barbetti

Pediatr Diabetes. Author manuscript; available in PMC 2013 Aug 20.

Published in final edited form as: Pediatr Diabetes. 2012 Dec; 13(8): 656–660. Published online 2012 Jun 14. doi: 10.1111/j.1399-5448.2012.00874.x

PMCID:: PMC3747824

Abstract Article PDF–571K

Select item 239998419.

Homozygous variegate porphyria: an evolving clinical syndrome.

R. J. Hift, P. N. Meissner, G. Todd, P. Kirby, D. Bilsland, P. Collins, J. Ferguson, M. R. Moore

Postgrad Med J. 1993 Oct; 69(816): 781–786. doi: 10.1136/pgmj.69.816.781

Correction in:: Postgrad Med J. 1994 Nov; 70(829): 855.

PMCID:: PMC2399984

Summary Page Browse PDF–1.5M

Select item 123553020.

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki, Kanefusa Kato, Shin-ichi Sonta, Hiroshi Ono, Tsutomu Yamanaka, Masahiro Nagaya, Nobuaki Wakamatsu

Am J Hum Genet. 2001 Dec; 69(6): 1178–1185. Published online 2001 Oct 2. doi: 10.1086/324343

PMCID:: PMC1235530

Abstract Article PDF–417K

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