Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Epilepsy and MTOR[original query] |
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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 |
Mutations in the mammalian target of rapamycin 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 |
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 |
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurology. Genetics 2016 Dec 2 (6): e118. Møller Rikke S, Weckhuysen Sarah, Chipaux Mathilde, Marsan Elise, Taly Valerie, Bebin E Martina, Hiatt Susan M, Prokop Jeremy W, Bowling Kevin M, Mei Davide, Conti Valerio, de la Grange Pierre, Ferrand-Sorbets Sarah, Dorfmüller Georg, Lambrecq Virginie, Larsen Line H G, Leguern Eric, Guerrini Renzo, Rubboli Guido, Cooper Gregory M, Baulac Stéphan |
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 |
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 |
Somatic variants in new candidate genes identified in focal cortical dysplasia type II. Epilepsia 2020 3 61 (4): 667-678. Zhang Zhongbin, Gao Kai, Liu Qingzhu, Zhou Jiapeng, Li Xiyuan, Lang Na, Liu Ming, Wang Tianshuang, Zhang Jie, Wang Hui, Dong Ying, Ji Taoyun, Wang Shuang, Liu Xiaoyan, Jiang Yuwu, Cai Lixin, Wu |
Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study. Frontiers in genetics 2020 3 11 204. Ding Yifeng, Wang Ji, Zhou Shuizhen, Zhou Yuanfeng, Zhang Linmei, Yu Lifei, Wang |
Somatostatin receptor expression and mTOR pathway activation in glioneuronal tumours of childhood. Seizure 2020 2 76 123-130. Ehrstedt Christoffer, Ahlsten Gunnar, Strömberg Bo, Lindskog Cecilia, Casar-Borota Olive |
Effect of PIK3CA variants on glioma-related epilepsy and response to treatment. Epilepsy research 2021 Jun 175 106681. Tobochnik Steven, Pisano William, Lapinskas Emily, Ligon Keith L, Lee Jong W |
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 |
Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches. Frontiers in genetics 2022 4 13 798607. Granata Paola, Cocciadiferro Dario, Zito Alessandra, Pessina Chiara, Bassani Alessandro, Zambonin Fabio, Novelli Antonio, Fasano Mauro, Casalone Rosar |
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 |
Brain molecular mechanisms in Rasmussen encephalitis. Epilepsia 2022 11 64 (1): 218-230. Leitner Dominique F, Lin Ziyan, Sawaged Zacharia, Kanshin Evgeny, Friedman Daniel, Devore Sasha, Ueberheide Beatrix, Chang Julia W, Mathern Gary W, Anink Jasper J, Aronica Eleonora, Wisniewski Thomas, Devinsky Orr |
Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain. Journal of clinical neurology (Seoul, Korea) 2022 1 18 (1): 71-78. Ko Ara, Sim Nam Suk, Choi Han Som, Yang Donghwa, Kim Se Hee, Lee Joon Soo, Kim Dong Seok, Lee Jeong Ho, Kim Heung Dong, Kang Hoon-Ch |
Clinical and genetic features of GATOR1 complex-associated epilepsy. Journal of medical genetics 2023 1 . Yin Kaili, Lei Xingxing, Yan Zhaofen, Yang Yujiao, Deng Qinqin, Lu Qiang, Zhang Xue, Wang Mengyang, Liu Qi |
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- Page last updated:Apr 22, 2024
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