HuGE Literature Finder
Records 1-5
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Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Acta neuropathologica 2019 Aug . Sim Nam Suk, Ko Ara, Kim Woo Kyeong, Kim Se Hoon, Kim Ju Seong, Shim Kyu-Won, Aronica Eleonora, Mijnsbergen Caroline, Spliet Wim G M, Koh Hyun Yong, Kim Heung Dong, Lee Joon Soo, Kim Dong Seok, Kang Hoon-Chul, Lee Jeong |
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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, Crino Peter B, Poduri Annapurna H, Heinzen Erin |
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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
American journal of medical genetics. Part A 2016 Feb . Brownstein Catherine A, Kleiman Robin J, Engle Elizabeth C, Towne Meghan C, D'Angelo Eugene J, Yu Timothy W, Beggs Alan H, Picker Jonathan, Fogler Jason M, Carroll Devon, Schmitt Rachel C O, Wolff Robert R, Shen Yiping, Lip Va, Bilguvar Kaya, Kim April, Tembulkar Sahil, O'Donnell Kyle, Gonzalez-Heydrich Jose |
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Mutations in the mTOR pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Annals of neurology 2015 Oct . Ricos Michael G, Hodgson Bree L, Pippucci Tommaso, Saidin Akzam, Sze Ong Yeh, Heron Sarah E, Licchetta Laura, Bisulli Francesca, Bayly Marta A, Hughes James, Baldassari Sara, Palombo Flavia, , Santucci Margherita, Meletti Stefano, Berkovic Samuel F, Rubboli Guido, Thomas Paul Q, Scheffer Ingrid E, Tinuper Paolo, Geoghegan Joel, Schreiber Andreas W, Dibbens Leanne |
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[Association of mammalian target of rapamycin gene polymorphisms with the risk of pediatric epilepsy].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015 Jun 17 (6): 560-4. Yue Xin, Zhao Pei-Wei, Liu Zhi-Sheng, Wu Ge-Fei, Tu Fei, Hu Jia-Sheng, He Xue-Li |
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