Article
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Nature genetics - 1 Feb 2023
Chung Changuk, Yang Xiaoxu, Bae Taejeong, Vong Keng Ioi, Mittal Swapnil, Donkels Catharina, Westley Phillips H, Li Zhen, Marsh Ashley P L, Breuss Martin W, Ball Laurel L, Garcia Camila Araújo Bernardino, George Renee D, Gu Jing, Xu Mingchu, Barrows Chelsea, James Kiely N, Stanley Valentina, Nidhiry Anna S, Khoury Sami, Howe Gabrielle, Riley Emily, Xu Xin, Copeland Brett, Wang Yifan, Kim Se Hoon, Kang Hoon-Chul, Schulze-Bonhage Andreas, Haas Carola A, Urbach Horst, Prinz Marco, Limbrick David D, Gurnett Christina A, Smyth Matthew D, Sattar Shifteh, Nespeca Mark, Gonda David D, Imai Katsumi, Takahashi Yukitoshi, Chen Hsin-Hung, Tsai Jin-Wu, Conti Valerio, Guerrini Renzo, Devinsky Orrin, Silva Wilson A, Machado Helio R, Mathern Gary W, Abyzov Alexej, Baldassari Sara, Baulac Stéphanie, Gleeson Joseph G
Abstract excerpt
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. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related...
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