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Select item 81683791.

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

Abstract Article PDF–908K

Select item 33192392.

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

Abstract Article PDF–314K

Select item 33434333.

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

Abstract Article PDF–548K

Select item 40195624.

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

Abstract Article PDF–907K

Select item 53334895.

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

Abstract Article PDF–711K

Select item 56736056.

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

Abstract Article PDF–2.0M

Select item 65568377.

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

Abstract Article PDF–1.5M

Select item 68750008.

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 71985039.

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 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

Abstract Article PDF–1.2M

Select item 771375111.

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

Abstract Article PDF–689K

Select item 779030212.

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

Abstract Article PDF–2.2M

Select item 805937213.

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

Abstract Article PDF–1.6M

Select item 1129290514.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias de Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S de Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy McTague, Stephanie Efthymiou, Kshitij Mankad

Brain. 2024 Aug; 147(8): 2775–2790. Published online 2024 Mar 8. doi: 10.1093/brain/awae056

PMCID:: PMC11292905

Abstract Article PDF–1.1M

Select item 916436815.

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

Abstract Article PDF–1.3M

Select item 960638116.

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

Abstract Article PDF–881K

Select item 1009953017.

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

Abstract Article PDF–638K

Select item 1037464318.

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

Abstract Article PDF–2.8M

Select item 1063701919.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex

D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer, Regina Trollmann

Orphanet J Rare Dis. 2023; 18: 349. Published online 2023 Nov 9. doi: 10.1186/s13023-023-02959-0

PMCID:: PMC10637019

Abstract Article PDF–953K

Select item 1065552520.

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

Abstract Article PDF–3.9M

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