Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Autor: Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya

Publikováno v: Epilepsia Open, Vol 4, Iss 3, Pp 397-408 (2019)

Abstract Objective Molecular genetic etiologies in epilepsy have become better understood in recent years, creating important opportunities for precision medicine. Building on these advances, detailed studies of the complexities and outcomes of genet

Externí odkaz: https://doaj.org/article/63da92c7102c47088be6ed489b30083b

Capturing seizures in clinical trials of antiseizure medications for KCNQ2 ‐DEE

Autor: Dennis J. Dlugos, Jacqueline A. French, Cynthia L. Harden, Simon N. Pimstone, Noam Butterfield, Celene Grayson, Ernesto Aycardi, John Millichap

Publikováno v: Epilepsia Open
Epilepsia Open, Vol 6, Iss 1, Pp 38-44 (2021)

Literature review of patients with KCNQ2 developmental and epileptic encephalopathy (KCNQ2‐DEE) reveals, based on 16 reports including 139 patients, a clinical phenotype that includes age‐ and disease‐specific stereotyped seizures. The typical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb0223cef1df2310aa581f03fbcae77
https://doi.org/10.1002/epi4.12466

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autor: Robert A. Hegele, Maria Iascone, Kevin A. Shapiro, Nicolas Chatron, Marwan Shinawi, Joel Charrow, Jeffrey W. Innis, Luitgard Graul-Neumann, Joanna Goes Castro Meira, Anna Lehman, Dawn L. Earl, Victoria R. Sanders, Shannon Rego, David A. Sweetser, Clémantine Dimartino, Wilhelmina S. Kerstjens-Frederikse, Antonio Vitobello, Davor Lessel, Daniel Grinberg, Laurence Faivre, Ryan Peretz, Katherine M. Christensen, Emma Reesor, Erin Beaver, Elizabeth Wohler, Margot R.F. Reijnders, Deborah Barbouth, Anna Cereda, Kaja Kristine Selmer, Melissa A. Walker, Barbro Stadheim, Alessandro Serretti, Helen Kingston, Jill Clayton-Smith, Raymond Lewandowski, Bernarda Lozić, Robert Stratton, Amelia Kirby, Anne H. O’Donnell-Luria, Sara Gabbiadini, Susanna Balcells, Myriam Oufadem, Christel Thauvin, Maha Aly, Wendy K. Chung, Susan M. White, Lauren C. Briere, Thomas Smol, Stanislas Lyonnet, Roberto Colombo, Catherine E. Keegan, Marie T. McDonald, Melanie Parisot, Tiong Yang Tan, Brian Wong, Christopher T. Gordon, Magnus Dehli Vigeland, Frances A. High, Emily Bryant, Audrey Labalme, Nara Sobreira, Arnold Munnich, Jeanne Amiel, Dayna Morel Swols, Raquel Rabionet, Laura Castilla-Vallmanya, Jennifer Heeley, Gunnar Houge, Michael J. Gambello, Bernardo Blanco-Sánchez, Lynn Pais, Olena M. Vaske, Roser Urreizti, Alison Wray, Veronique Pingault, Damien Sanlaville, John Christodoulou, John Millichap, Valérie Cormier-Daire, Parul Jayakar, Helen Cox, Frédéric Tran Mau-Them, Belinda Chong, Victoria Mok Siu, Anne Slavotinek, Antonie J. van Essen, Ingvild Aukrust, Lorne A. Clarke, Rachel Gannaway, Anne Dieux-Coeslier, Patrick Nitschké, Tony Yao, Simon Sadedin, Danielle Karlowicz, Christelle Rougeot, Christine Bole-Feysot, Sandra Yang, Megan T. Cho, Gaetan Lesca, Christiane Zweier

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Genetics in Medicine, 22(7), 1215-1226. Nature Publishing Group
Genet Med

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ecbcc89382dda63f833e0863a3f1a46
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8

Message from the Editors to our Reviewers

Autor: Josep Dalmau, Bradford B. Worrall, Olga Ciccarelli, Jonathan W. Mink, Anthony A. Amato, John R. Corboy, Robert A. Gross, Ryan J. Uitti, John Millichap, Rebecca F. Gottesman, Stefan M. Pulst, Murray Grossman, Gregory D. Cascino

Publikováno v: Neurology. 94:3-11

From April 1, 2011, through September 30, 2011, Neurology ® received 2,167 new and 643 revised manuscripts. During this interval, 3,909 peer reviews were received (compared to 3,758 during the same period in 2010), with the average turnaround time a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ede3ac23adc4e52889dda011a1de02e
https://doi.org/10.1212/wnl.0000000000008689

Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy

Autor: Christopher H. Thompson, Carlos G. Vanoye, John Millichap, Alfred L. George, Tracy S. Gertler

Publikováno v: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1606-1615 (2019)

Objective We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::216c4dff557a90716ce262e039347e0d
https://doi.org/10.1002/acn3.50847