PMC Articles for MedGen (Select 1648407) - PMC

Select item 106555251.

Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders

Liping Zhang, Xu‐Ying Li, Fanxi Xu, Lehong Gao, Zhanjun Wang, Xianling Wang, Xian Li, Mengyu Liu, Junge Zhu, Tingyan Yao, Jing Ye, Xiao‐Hong Qi, Yaqing Wang, Guoguang Zhao, Chaodong Wang, The Xuanwu Molecular Counselling Group for Neurogenetic Diseases

Mol Genet Genomic Med. 2023 Nov; 11(11): e2243. Published online 2023 Jul 24. doi: 10.1002/mgg3.2243

PMCID:: PMC10655525

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Select item 103746432.

Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy

Gui-mei Yang, Fu-yun Tian, Yan-wen Shen, Chuan-yan Yang, Hui Yuan, Ping Li, Zhao-bing Gao

Acta Pharmacol Sin. 2023 Aug; 44(8): 1589–1599. Published online 2023 Mar 17. doi: 10.1038/s41401-023-01073-y

PMCID:: PMC10374643

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Select item 100995303.

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies

Isabel Haviland, Carolyn I. Daniels, Caitlin A. Greene, Jacqueline Drew, Jamie A. Love-Nichols, Lindsay C. Swanson, Lacey Smith, Duyu A. Nie, Timothy Benke, Beth R. Sheidley, Bo Zhang, Annapurna Poduri, Heather E. Olson

Pediatr Neurol. Author manuscript; available in PMC 2023 Apr 13.

Published in final edited form as: Pediatr Neurol. 2023 Jan; 138: 71–80. Published online 2022 Oct 26. doi: 10.1016/j.pediatrneurol.2022.10.006

PMCID:: PMC10099530

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Select item 96063814.

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

Maria Lucia Cediel, Michal Stawarski, Xavier Blanc, Lenka Nosková, Martin Magner, Konrad Platzer, Janina Gburek-Augustat, Dustin Baldridge, John N. Constantino, Emmanuelle Ranza, Bernhard Bettler, Stylianos E. Antonarakis

Am J Hum Genet. 2022 Oct 6; 109(10): 1885–1893. Published online 2022 Sep 13. doi: 10.1016/j.ajhg.2022.08.010

PMCID:: PMC9606381

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Select item 91643685.

Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description

Damien Wright, Aisling Kenny, Sarah Eley, Andrew G. McKechanie, Andrew C. Stanfield

J Neurodev Disord. 2022; 14: 34. Published online 2022 Jun 2. doi: 10.1186/s11689-022-09437-x

PMCID:: PMC9164368

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Select item 81683796.

Defining the phenotype of FHF1 developmental and epileptic encephalopathy

Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio

Epilepsia. Author manuscript; available in PMC 2021 Jun 1.

Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582

PMCID:: PMC8168379

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Select item 80593727.

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen L. Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro Filla, Anna T. Giallonardo, Geza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna-Elina Lehesjoki

Am J Hum Genet. 2021 Apr 1; 108(4): 722–738. Published online 2021 Apr 1. doi: 10.1016/j.ajhg.2021.03.013

PMCID:: PMC8059372

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Select item 77903028.

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy

Yuliya Voskobiynyk, Gopal Battu, Stephanie A. Felker, J. Nicholas Cochran, Megan P. Newton, Laura J. Lambert, Robert A. Kesterson, Richard M. Myers, Gregory M. Cooper, Erik D. Roberson, Gregory S. Barsh

PLoS Genet. 2021 Jan; 17(1): e1009195. Published online 2021 Jan 7. doi: 10.1371/journal.pgen.1009195

PMCID:: PMC7790302

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Select item 77137519.

Familial aggregation of status epilepticus in generalized and focal epilepsies

Judith L.Z. Weisenberg, Robert T. Fitzgerald, John N. Constantino, Melodie R. Winawer, Liu Lin Thio, for the EPGP Investigators

Neurology. 2020 Oct 13; 95(15): e2140–e2149. doi: 10.1212/WNL.0000000000010708

PMCID:: PMC7713751

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Select item 733672410.

Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy

Pu Miao, Siyang Tang, Jia Ye, Jianda Wang, Yuting Lou, Bijun Zhang, Xiaoxiao Xu, Xiaoquan Chen, Yuezhou Li, Jianhua Feng

Mol Genet Genomic Med. 2020 Jul; 8(7): e1250. Published online 2020 May 13. doi: 10.1002/mgg3.1250

PMCID:: PMC7336724

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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

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Select item 687500012.

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

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Select item 655683713.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Deciphering Developmental Disorders (DDD) Study, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Jr., Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan

Am J Hum Genet. 2019 Jun 6; 104(6): 1210–1222. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.021

PMCID:: PMC6556837

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Select item 567360514.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J.C. Lamers, Margot R.F. Reijnders, Hanka Venselaar, Alison Kraus, DDD Study, Sandra Jansen, Bert B.A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J.F. Letteboer, Sylvia E.C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald Roepman

Am J Hum Genet. 2017 Nov 2; 101(5): 824–832. Published online 2017 Oct 26. doi: 10.1016/j.ajhg.2017.09.015

PMCID:: PMC5673605

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Select item 533348915.

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

Andrea J. Gonzalez-Mantilla, Andres Moreno-De-Luca, David H. Ledbetter, Christa Lese Martin

JAMA Psychiatry. Author manuscript; available in PMC 2017 Mar 2.

Published in final edited form as: JAMA Psychiatry. 2016 Mar; 73(3): 275–283. doi: 10.1001/jamapsychiatry.2015.2692

PMCID:: PMC5333489

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Select item 401956216.

Natural course of pontocerebellar hypoplasia type 2A

Iciar Sánchez-Albisua, Saskia Frölich, Peter G Barth, Maja Steinlin, Ingeborg Krägeloh-Mann

Orphanet J Rare Dis. 2014; 9: 70. Published online 2014 May 5. doi: 10.1186/1750-1172-9-70

PMCID:: PMC4019562

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Select item 334343317.

Genetic and Epileptic Features in Rett Syndrome

Hyo Jeong Kim, Shin Hye Kim, Heung Dong Kim, Joon Soo Lee, Young-Mock Lee, Kyo Yeon Koo, Jin Sung Lee, Hoon-Chul Kang

Yonsei Med J. 2012 May 1; 53(3): 495–500. Published online 2012 Mar 28. doi: 10.3349/ymj.2012.53.3.495

PMCID:: PMC3343433

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Select item 331923918.

A Neurocognitive Endophenotype Associated with Rolandic Epilepsy

Anna B Smith, Peregrine M Kavros, Tara Clarke, Nelson J Dorta, Geoffrey Tremont, Deb K Pal

Epilepsia. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Epilepsia. 2012 Apr; 53(4): 705–711. Published online 2012 Jan 5. doi: 10.1111/j.1528-1167.2011.03371.x

PMCID:: PMC3319239

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Select item 703595819.

Imaging epilepsy in larval zebrafish

D.R.W. Burrows, É. Samarut, J. Liu, S.C. Baraban, M.P. Richardson, M.P. Meyer, R.E. Rosch

Eur J Paediatr Neurol. 2020 Jan; 24: 70–80. doi: 10.1016/j.ejpn.2020.01.006

PMCID:: PMC7035958

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Select item 511037420.

Regulation of brain PPARgamma2 contributes to ketogenic diet anti-seizure efficacy

Timothy A. Simeone, Stephanie A. Matthews, Kaeli K. Samson, Kristina A. Simeone

Exp Neurol. Author manuscript; available in PMC 2018 Jan 1.

Published in final edited form as: Exp Neurol. 2017 Jan; 287(Pt 1): 54–64. Published online 2016 Aug 12. doi: 10.1016/j.expneurol.2016.08.006

PMCID:: PMC5110374

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