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Literature DB >> 29694806

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

Candace T Myers¹, Georgina Hollingsworth², Alison M Muir¹, Amy L Schneider², Zoe Thuesmunn¹, Allison Knupp¹, Chontelle King³, Amy Lacroix¹, Michele G Mehaffey¹, Samuel F Berkovic², Gemma L Carvill⁴, Lynette G Sadleir³, Ingrid E Scheffer², Heather C Mefford⁵.

Abstract

Entities: Chemical Disease Gene Mutation Species

Mesh：

Year: 2018 PMID： 29694806 PMCID： PMC5966016 DOI： 10.1056/NEJMc1714579

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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5 in total

1. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Authors: Joseph B Hiatt; Colin C Pritchard; Stephen J Salipante; Brian J O'Roak; Jay Shendure
Journal: Genome Res Date: 2013-02-04 Impact factor: 9.043

Review 2. De novo mutations in human genetic disease.

Authors: Joris A Veltman; Han G Brunner
Journal: Nat Rev Genet Date: 2012-07-18 Impact factor: 53.242

3. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors: Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal: Genet Med Date: 2015-03-05 Impact factor: 8.822

4. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Authors: Xiaojing Xu; Xiaoxu Yang; Qixi Wu; Aijie Liu; Xiaoling Yang; Adam Yongxin Ye; August Yue Huang; Jiarui Li; Meng Wang; Zhe Yu; Sheng Wang; Zhichao Zhang; Xiru Wu; Liping Wei; Yuehua Zhang
Journal: Hum Mutat Date: 2015-07-24 Impact factor: 4.878

5. De novo mutations in epileptic encephalopathies.

Authors: Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal: Nature Date: 2013-08-11 Impact factor: 49.962

5 in total

34 in total

1. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Authors: Rosemary Burgess; Shuyu Wang; Amy McTague; Katja E Boysen; Xiaoling Yang; Qi Zeng; Kenneth A Myers; Anne Rochtus; Marina Trivisano; Deepak Gill; Lynette G Sadleir; Nicola Specchio; Renzo Guerrini; Carla Marini; Yue-Hua Zhang; Heather C Mefford; Manju A Kurian; Annapurna H Poduri; Ingrid E Scheffer
Journal: Ann Neurol Date: 2019-12 Impact factor: 10.422

2. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Authors: 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
Journal: Epilepsia Date: 2020-07-09 Impact factor: 5.864

3. Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.

Authors: Qian Liu; Justyna A Karolak; Christopher M Grochowski; Theresa A Wilson; Jill A Rosenfeld; Carlos A Bacino; Seema R Lalani; Ankita Patel; Amy Breman; Janice L Smith; Sau Wai Cheung; James R Lupski; Weimin Bi; Pawel Stankiewicz
Journal: Genomics Date: 2020-05-06 Impact factor: 5.736

4. Epilepsy in families: Age at onset is a familial trait, independent of syndrome.

Authors: Colin A Ellis; Leonid Churilov; Michael P Epstein; Sharon X Xie; Susannah T Bellows; Ruth Ottman; Samuel F Berkovic
Journal: Ann Neurol Date: 2019-05-20 Impact factor: 10.422

5. Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Authors: McKenna Kelly; Meredith Park; Ivana Mihalek; Anne Rochtus; Marie Gramm; Eduardo Pérez-Palma; Erika Takle Axeen; Christina Y Hung; Heather Olson; Lindsay Swanson; Irina Anselm; Lauren C Briere; Frances A High; David A Sweetser; Saima Kayani; Molly Snyder; Sophie Calvert; Ingrid E Scheffer; Edward Yang; Jeff L Waugh; Dennis Lal; Olaf Bodamer; Annapurna Poduri
Journal: Epilepsia Date: 2019-01-25 Impact factor: 5.864

6. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors: Katherine L Helbig; Robert J Lauerer; Jacqueline C Bahr; Ivana A Souza; Candace T Myers; Betül Uysal; Niklas Schwarz; Maria A Gandini; Sun Huang; Boris Keren; Cyril Mignot; Alexandra Afenjar; Thierry Billette de Villemeur; Delphine Héron; Caroline Nava; Stéphanie Valence; Julien Buratti; Christina R Fagerberg; Kristina P Soerensen; Maria Kibaek; Erik-Jan Kamsteeg; David A Koolen; Boudewijn Gunning; H Jurgen Schelhaas; Michael C Kruer; Jordana Fox; Somayeh Bakhtiari; Randa Jarrar; Sergio Padilla-Lopez; Kristin Lindstrom; Sheng Chih Jin; Xue Zeng; Kaya Bilguvar; Antigone Papavasileiou; Qinghe Xing; Changlian Zhu; Katja Boysen; Filippo Vairo; Brendan C Lanpher; Eric W Klee; Jan-Mendelt Tillema; Eric T Payne; Margot A Cousin; Teresa M Kruisselbrink; Myra J Wick; Joshua Baker; Eric Haan; Nicholas Smith; Azita Sadeghpour; Erica E Davis; Nicholas Katsanis; Mark A Corbett; Alastair H MacLennan; Jozef Gecz; Saskia Biskup; Eva Goldmann; Lance H Rodan; Elizabeth Kichula; Eric Segal; Kelly E Jackson; Alexander Asamoah; David Dimmock; Julie McCarrier; Lorenzo D Botto; Francis Filloux; Tatiana Tvrdik; Gregory D Cascino; Sherry Klingerman; Catherine Neumann; Raymond Wang; Jessie C Jacobsen; Melinda A Nolan; Russell G Snell; Klaus Lehnert; Lynette G Sadleir; Britt-Marie Anderlid; Malin Kvarnung; Renzo Guerrini; Michael J Friez; Michael J Lyons; Jennifer Leonhard; Gabriel Kringlen; Kari Casas; Christelle M El Achkar; Lacey A Smith; Alexander Rotenberg; Annapurna Poduri; Alba Sanchis-Juan; Keren J Carss; Julia Rankin; Adam Zeman; F Lucy Raymond; Moira Blyth; Bronwyn Kerr; Karla Ruiz; Jill Urquhart; Imelda Hughes; Siddharth Banka; Ulrike B S Hedrich; Ingrid E Scheffer; Ingo Helbig; Gerald W Zamponi; Holger Lerche; Heather C Mefford
Journal: Am J Hum Genet Date: 2018-10-18 Impact factor: 11.025

7. A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.

Authors: Tracy S Gertler; Jeffrey Calhoun; Linda Laux
Journal: Seizure Date: 2019-12-13 Impact factor: 3.184

8. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Authors: Sarah E Heron; Brigid M Regan; Rebekah V Harris; Alison E Gardner; Matthew J Coleman; Mark F Bennett; Bronwyn E Grinton; Katherine L Helbig; Michael R Sperling; Sheryl Haut; Eric B Geller; Peter Widdess-Walsh; James T Pelekanos; Melanie Bahlo; Slavé Petrovski; Erin L Heinzen; Michael S Hildebrand; Mark A Corbett; Ingrid E Scheffer; Jozef Gécz; Samuel F Berkovic
Journal: Neurology Date: 2021-03-23 Impact factor: 9.910

9. Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.

Authors: Wenxi Yu; Corrine E Smolen; Sophie F Hill; Miriam H Meisler
Journal: Hum Mol Genet Date: 2021-05-29 Impact factor: 6.150

10. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Authors: Meng-Han Tsai; Alison M Muir; Won-Jing Wang; Yi-Ning Kang; Kun-Chuan Yang; Nian-Hsin Chao; Mei-Feng Wu; Ying-Chao Chang; Brenda E Porter; Laura A Jansen; Guillaume Sebire; Nicolas Deconinck; Wen-Lang Fan; Shih-Chi Su; Wen-Hung Chung; Edith P Almanza Fuerte; Michele G Mehaffey; Ching-Ching Ng; Chung-Kin Chan; Kheng-Seang Lim; Richard J Leventer; Paul J Lockhart; Kate Riney; John A Damiano; Michael S Hildebrand; Ghayda M Mirzaa; William B Dobyns; Samuel F Berkovic; Ingrid E Scheffer; Jin-Wu Tsai; Heather C Mefford
Journal: Neuron Date: 2020-02-24 Impact factor: 17.173