Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

by Emanuela Leonardi, Emanuela Leonardi, Elisa Bettella, Elisa Bettella, Maria Federica Pelizza, Maria Cristina Aspromonte, Maria Cristina Aspromonte, Roberta Polli, Roberta Polli, Clementina Boniver, Stefano Sartori, Donatella Milani, Alessandra Murgia, Alessandra Murgia
Published 2020-12-01

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

by Emanuela Leonardi, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio, Elisa Bettella, Ilaria Donati, Elisa Cainelli, Stefania Boni, Stefano Sartori, Chiara Pantaleoni, Clementina Boniver, Alessandra Murgia
Published 2020-03-01

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
Published 2019-10-01