Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: Epilepsy and TSC2[original query] |
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[Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype]. Anales de pediatría (Barcelona, Spain : 2003) 2014 Nov 81 (5): 289-96. Monteiro T, Garrido C, Pina S, Chorão R, Carrilho I, Figueiroa S, Santos M, Temudo |
Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers. Orphanet journal of rare diseases 2015 10 154. Vignoli Aglaia, La Briola Francesca, Peron Angela, Turner Katherine, Vannicola Chiara, Saccani Monica, Magnaghi Elisabetta, Scornavacca Giulia Federica, Canevini Maria Pao |
[Efficacy and safety of rapamycin in treatment of children with epilepsy complicated with tuberous sclerosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2015 1 52 (11): 812-6. Zou Liping, Liu Yujie, Pang Lingyu, Ju Jun, Shi Zening, Zhang Junsi, Chen Xiaoqiao, Su Xiaojun, Hu Linyan, Shi Xiuyu, Yang Xiaof |
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy. Pediatric neurology 2016 Jul . Segal Eric, Pedro Helio, Valdez-Gonzalez Karen, Parisotto Sarah, Gliksman Felicia, Thompson Stephen, Sabri Jomard, Fertig Ev |
Epilepsy may be the major risk factor of mental retardation in children with tuberous sclerosis: A retrospective cohort study. Epilepsy & behavior : E&B 2017 10 77 13-18. Wang Yang-Yang, Pang Ling-Yu, Ma Shu-Fang, Zhang Meng-Na, Liu Li-Ying, Zou Li-Pi |
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 3 22 (3): 419-426. Papadopoulou Anna, Dinopoulos Argyrios, Koutsodontis George, Pons Roser, Vorgia Pelagia, Koute Vasiliki, Vratimos Athanassios, Zafeiriou Dimitri |
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Seizure 2019 9 71 322-327. Lin Shan, Zeng Jia-Bin, Zhao Gui-Xian, Yang Zhen-Zhen, Huang Hui-Ping, Lin Min-Ting, Wu Zhi-Ying, Wang Ning, Chen Wan-Jin, Fang Li |
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 |
Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report. Medicine 2020 9 99 (35): e21949. Chen Lin, Jiang Yu, Wang Ji |
Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome. Pediatric research 2020 6 89 (6): 1447-1451. Chan Denise L, Kennedy Sean E, Sarkozy Vanessa E, Chung Clara W T, Flanagan Danny, Mowat David, Farrar Michelle A, Lawson John |
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (9): 1489-1497. Ogórek Barbara, Hamieh Lana, Hulshof Hanna M, Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C, Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Doma?ska-Pakie?a Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E, Kotulska Katarzyna, , Kwiatkowski David |
Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study. Pediatric neurology 2020 3 106 10-16. Gupta Ajay, de Bruyn Gwendolyn, Tousseyn Simon, Krishnan Balu, Lagae Lieven, Agarwal Nitin, |
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 |
High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020 12 84 40-46. Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang |
Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. Pediatric neurology 2020 10 113 46-50. Farach Laura S, Richard Melissa A, Lupo Philip J, Sahin Mustafa, Krueger Darcy A, Wu Joyce Y, Bebin Elizabeth M, Au Kit Sing, Northrup Hope, |
Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort. Seizure 2021 7 91 273-277. Ding Yifeng, Zhou Yuanfeng, Yu Lifei, Zhang Linmei, Zhou Shuizhen, Wang Yi, Wang |
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. Child neurology open 2021 5 8 2329048X211012817. Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Mar |
Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine 2021 Apr 66 103309. Amanat Sana, Gallego-Martinez Alvaro, Sollini Joseph, Perez-Carpena Patricia, Espinosa-Sanchez Juan M, Aran Ismael, Soto-Varela Andres, Batuecas-Caletrio Angel, Canlon Barbara, May Patrick, Cederroth Christopher R, Lopez-Escamez Jose |
Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review. Journal of clinical medicine 2021 12 10 (23): . Miszewska Dominika, Sugalska Monika, Jó?wiak Sergiu |
Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
Genetic analysis of 18 families with tuberous sclerosis complex. Neurogenetics 2022 5 23 (3): 223-230. Yin Kaili, Lin Nan, Lu Qiang, Jin Liri, Huang Yan, Zhou Xiangqin, Xu Kaifeng, Liu Qing, Zhang X |
Tuberous sclerosis complex is associated with a novel human tauopathy. Acta neuropathologica 2022 12 145 (1): 1-12. Hwang Ji-Hye L, Perloff Olga S, Gaus Stephanie E, Benitez Camila, Alquezar Carolina, Cosme Celica Q, Nana Alissa L, Vatsavayai Sarat C, Ramos Eliana M, Geschwind Daniel H, Miller Bruce L, Kao Aimee W, Seeley William |
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. International journal of molecular sciences 2022 10 23 (19): . Togi Sumihito, Ura Hiroki, Hatanaka Hisayo, Niida |
Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. Yonsei medical journal 2023 1 64 (2): 133-138. Ryu Soyoung, Kang Hoon-Chul, Lee Sung Chul, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungk |
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- Page last updated:Apr 22, 2024
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