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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 18, 2025. (Total: 235441Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Malformations of Cortical Development and MTOR[original query]
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Annals of neurology 2018 Apr .
Winawer Melodie R, Griffin Nicole G, Samanamud Jorge, Baugh Evan H, Rathakrishnan Dinesh, Ramalingam Senthilmurugan, Zagzag David, Schevon Catherine A, Dugan Patricia, Hegde Manu, Sheth Sameer A, McKhann Guy M, Doyle Werner K, Grant Gerald A, Porter Brenda E, Mikati Mohamad A, Muh Carrie R, Malone Colin D, Bergin Ann Marie R, Peters Jurriaan M, McBrian Danielle K, Pack Alison M, Akman Cigdem I, LaCoursiere Christopher M, Keever Katherine M, Madsen Joseph R, Yang Edward, Lidov Hart G W, Shain Catherine, Allen Andrew S, Canoll Peter D, Crino Peter B, Poduri Annapurna H, Heinzen Erin
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Epilepsia 2022 Jun .
Bedrosian Tracy A, Miller Katherine E, Grischow Olivia E, Schieffer Kathleen M, LaHaye Stephanie, Yoon Hyojung, Miller Anthony R, Navarro Jason, Westfall Jesse, Leraas Kristen, Choi Samantha, Williamson Rachel, Fitch James, Kelly Benjamin J, White Peter, Lee Kristy, McGrath Sean, Cottrell Catherine E, Magrini Vincent, Leonard Jeffrey, Pindrik Jonathan, Shaikhouni Ammar, Boué Daniel R, Thomas Diana L, Pierson Christopher R, Wilson Richard K, Ostendorf Adam P, Mardis Elaine R, Koboldt Daniel
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain : a journal of neurology 2022 4 145 (8): 2704-2720.
Lai Dulcie, Gade Meethila, Yang Edward, Koh Hyun Yong, Lu Jinfeng, Walley Nicole M, Buckley Anne F, Sands Tristan T, Akman Cigdem I, Mikati Mohamad A, McKhann Guy M, Goldman James E, Canoll Peter, Alexander Allyson L, Park Kristen L, Von Allmen Gretchen K, Rodziyevska Olga, Bhattacharjee Meenakshi B, Lidov Hart G W, Vogel Hannes, Grant Gerald A, Porter Brenda E, Poduri Annapurna H, Crino Peter B, Heinzen Erin
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