Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Keng Ioi Vong,; Mittal, Swapnil; Donkels, Catharina; H Westley Phillips,; Zhen, Li; Ashley P, L Marsh; Martin, W Breuss; Laurel, L Ball; Camila Araújo Bernardino Garcia,; Renee, D George; Jing, Gu; Mingchu, Xu; Barrows, Chelsea; Kiely, N James; Stanley, Valentina; Anna, S Nidhiry; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xin, Xu; Copeland, Brett; Wang, Yifan; Se Hoon Kim,; Kang, Hoon-Chul; Schulze-Bonhage, Andreas; Carola, A Haas; Urbach, Horst; Prinz, Marco; David, D Limbrick Jr; Christina, A Gurnett; Matthew, D Smyth; Sattar, Shifteh; Nespeca, Mark; David, D Gonda; Imai, Katsumi; Takahashi, Yukitoshi; Chen, Hsin-Hung; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Wilson, A Silva Jr; Helio, R Machado; Gary, W Mathern; Abyzov, Alexej; Baldassari, Sara; Baulac, Stéphanie; Focal Cortical Dysplasia Neurogenetics Consortium,; Brain Somatic Mosaicism Network,; Joseph, G Gleeson

doi:10.1038/s41588-022-01276-9

Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development / Changuk Chung , Xiaoxu Yang , Taejeong Bae , Keng Ioi Vong, Swapnil Mittal , Catharina Donkels , H Westley Phillips , Zhen Li, Ashley P L Marsh , Martin W Breuss , Laurel L Ball , Camila Araújo Bernardino Garcia , Renee D George , Jing Gu , Mingchu Xu , Chelsea Barrows , Kiely N James , Valentina Stanley , Anna S Nidhiry , Sami Khoury , Gabrielle Howe , Emily Riley , Xin Xu , Brett Copeland , Yifan Wang , Se Hoon Kim , Hoon-Chul Kang , Andreas Schulze-Bonhage , Carola A Haas, Horst Urbach , Marco Prinz , David D Limbrick Jr , Christina A Gurnett , Matthew D Smyth , Shifteh Sattar , Mark Nespeca , David D Gonda , Katsumi Imai , Yukitoshi Takahashi , Hsin-Hung Chen , Jin-Wu Tsai , Valerio Conti , Renzo Guerrini , Orrin Devinsky , Wilson A Silva Jr , Helio R Machado , Gary W Mathern , Alexej Abyzov , Sara Baldassari , Stéphanie Baulac ; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Joseph G Gleeson. - In: NATURE GENETICS. - ISSN 1061-4036. - ELETTRONICO. - (2023), pp. 209-220. [10.1038/s41588-022-01276-9]