Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

Autor: Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen

Publikováno v: Brain

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b668f913d3777727e5607d37b9cf55d9
https://doi.org/10.1093/brain/awac117

Tracking Multisite Seizure Propagation Using Ictal High-Gamma Activity

Autor: Shraddha Srinivasan, Steven Tobochnik, Guy M. McKhann, Hyunmi Choi, Anil Mendiratta, Cigdem I. Akman, Deepti Anbarasan, Paul F. Kent, Neil A. Feldstein, Lisa M. Bateman, Sameer A. Sheth, Carl W. Bazil, Michelle Bell, Alison M. Pack, Tristan T. Sands, Catherine A. Schevon, Danielle McBrian

Publikováno v: J Clin Neurophysiol

INTRODUCTION: Spatial patterns of long-range seizure propagation in epileptic networks have not been well characterized. Here, we use ictal high gamma activity as a proxy of intense neuronal population firing to map the spatial evolution of seizure r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::466610c0929772872edc645b06927488
https://doi.org/10.1097/wnp.0000000000000833

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Autor: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546

Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbef
http://europepmc.org/articles/PMC7060121

Tracking multi-site seizure propagation using ictal high frequency activity

Autor: Paul F. Kent, Catherine A. Schevon, Danielle McBrian, Carl W. Bazil, Neil A. Feldstein, Deepti Anbarasan, Anil Mendiratta, Alison M. Pack, Tristan T. Sands, Michelle Bell, Hyunmi Choi, Guy M. McKhann, Shraddha Srinivasan, Lisa M. Bateman, Steven Tobochnik, Sameer A. Sheth, Cigdem I. Akman

ObjectiveCharacterization of progressive multi-site seizure recruitment using high frequency oscillations.MethodsIctal and interictal high frequency oscillations were identified in a series of 13 patients with 72 seizures recorded by stereotactic dep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f99d406f15a9fb8beccf02f8cd8041

Safety and efficacy of stereoelectroencephalography in pediatric focal epilepsy: a single-center experience

Autor: Brett E. Youngerman, Sameer A. Sheth, Danielle K. McBrian, Arthur M. Mandel, Belinda Shao, Guy M. McKhann, James J. Riviello, Neil A. Feldstein, Hannah E. Goldstein, Cigdem I. Akman

Publikováno v: Journal of Neurosurgery: Pediatrics. 22:444-452

OBJECTIVEPatients with medically refractory localization-related epilepsy (LRE) may be candidates for surgical intervention if the seizure onset zone (SOZ) can be well localized. Stereoelectroencephalography (SEEG) offers an attractive alternative to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10b7bdd6d23df82c6a3721ef9e50e374
https://doi.org/10.3171/2018.5.peds1856