Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: Epilepsy and TRIO[original query] |
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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jul 17 (7): 578-86. Farwell Kelly D, Shahmirzadi Layla, El-Khechen Dima, Powis Zöe, Chao Elizabeth C, Tippin Davis Brigette, Baxter Ruth M, Zeng Wenqi, Mroske Cameron, Parra Melissa C, Gandomi Stephanie K, Lu Ira, Li Xiang, Lu Hong, Lu Hsiao-Mei, Salvador David, Ruble David, Lao Monica, Fischbach Soren, Wen Jennifer, Lee Shela, Elliott Aaron, Dunlop Charles L M, Tang S |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human genetics 2015 Jun 134 (6): 649-58. Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shig |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. PLoS genetics 2017 11 13 (11): e1007104. Zhu Xiaolin, Padmanabhan Raghavendra, Copeland Brett, Bridgers Joshua, Ren Zhong, Kamalakaran Sitharthan, O'Driscoll-Collins Ailbhe, Berkovic Samuel F, Scheffer Ingrid E, Poduri Annapurna, Mei Davide, Guerrini Renzo, Lowenstein Daniel H, Allen Andrew S, Heinzen Erin L, Goldstein David |
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS genetics 2018 5 14 (5): e1007281. Heinzen Erin L, O'Neill Adam C, Zhu Xiaolin, Allen Andrew S, Bahlo Melanie, Chelly Jamel, Chen Ming Hui, Dobyns William B, Freytag Saskia, Guerrini Renzo, Leventer Richard J, Poduri Annapurna, Robertson Stephen P, Walsh Christopher A, Zhang Mengqi, , |
Germline de novo variants in CSNK2B in Chinese patients with epilepsy. Scientific reports 2019 12 9 (1): 17909. Li Jinliang, Gao Kai, Cai Shuying, Liu Yin, Wang Yuzhen, Huang Shaoping, Zha Jian, Hu Wenjing, Yu Shujie, Yang Zhixian, Xie Han, Yan Huifang, Wang Jingmin, Wu Ye, Jiang Yu |
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. BMC pediatrics 2019 11 19 (1): 400. Lin Kao-Min, Su Geng, Wang Fengpeng, Zhang Xiaobin, Wang Yuanqing, Ren Jun, Wang Xin, Yao Yi, Zhou Yi |
Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 11 41 (3): 591-598. Chan Chung-Kin, Low Joyce Siew-Yong, Lim Kheng-Seang, Low Siew-Kee, Tan Chong-Tin, Ng Ching-Chi |
Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy. Frontiers in integrative neuroscience 2020 9 14 45. Stefani Stefani, Kousiappa Ioanna, Nicolaou Nicoletta, Papathanasiou Eleftherios S, Oulas Anastasis, Fanis Pavlos, Neocleous Vassos, Phylactou Leonidas A, Spyrou George M, Papacostas Savvas |
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2020 5 22 (8): 1413-1417. Singh Sakshi, Gupta Aditi, Zech Michael, Sigafoos Ashley N, Clark Karl J, Dincer Yasemin, Wagner Matias, Humberson Jennifer B, Green Sarah, van Gassen Koen, Brandt Tracy, Schnur Rhonda E, Millan Francisca, Si Yue, Mall Volker, Winkelmann Juliane, Gavrilova Ralitza H, Klee Eric W, Engleman Kendra, Safina Nicole P, Slaugh Rachel, Bryant Emily M, Tan Wen-Hann, Granadillo Jorge, Misra Sunita N, Schaefer G Bradley, Towner Shelley, Brilstra Eva H, Koeleman Bobby P |
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Molecular genetics & genomic medicine 2021 5 9 (6): e1689. Liu Liying, Liu Fang, Wang Qiuhong, Xie Hua, Li Zhengchang, Lu Qian, Wang Yangyang, Zhang Mengna, Zhang Yu, Picker Jonathan, Cui Xiaodai, Zou Liping, Chen Xiao |
Diverse genetic causes of polymicrogyria with epilepsy. Epilepsia 2021 Apr 62 (4): 973-983. Authors are not available |
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia. Frontiers in neuroscience 2021 4 15 629610. Ma Mei-Gang, Liu Xiao-Rong, Wu Yuan, Wang Jie, Li Bing-Mei, Shi Yi-Wu, Su Tao, Li Bin, Liu De-Tian, Yi Yong-Hong, Liao Wei-Pi |
UNC13B variants associated with partial epilepsy with favourable outcome. Brain : a journal of neurology 2021 4 144 (10): 3050-3060. Wang Jie, Qiao Jing-Da, Liu Xiao-Rong, Liu De-Tian, Chen Yan-Hui, Wu Yi, Sun Yan, Yu Jing, Ren Rong-Na, Mei Zhen, Liu Yu-Xi, Shi Yi-Wu, Jiang Mi, Lin Si-Mei, He Na, Li Bin, Bian Wen-Jun, Li Bing-Mei, Yi Yong-Hong, Su Tao, Liu Han-Kui, Gu Wei-Yue, Liao Wei-Pi |
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report. The Journal of international medical research 2021 12 49 (11): 3000605211058372. Qiu Tong, Dai Qian, Wang Q |
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 2022 7 15 864074. Zhou Peng, Meng Heng, Liang Xiaoyu, Lei Xiaoyun, Zhang Jingwen, Bian Wenjun, He Na, Lin Zhijian, Song Xingwang, Zhu Weiwen, Hu Bin, Li Bingmei, Yan Limin, Tang Bin, Su Tao, Liu Hankui, Mao Yong, Zhai Qiongxiang, Yi Yongho |
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications. Frontiers in molecular neuroscience 2022 5 15 860662. Li Xue-Lian, Li Zong-Jun, Liang Xiao-Yu, Liu De-Tian, Jiang Mi, Gao Liang-Di, Li Huan, Tang Xue-Qing, Shi Yi-Wu, Li Bing-Mei, He Na, Li Bin, Bian Wen-Jun, Yi Yong-Hong, Cheng Chuan-Fang, Wang J |
[Clinical analysis of early-onset infantile epileptic encephalopathy associated with synonymous variant of the ARHGEF9 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 10 39 (10): 1145-1148. Liu Yanping, Yang Liu, Li Tingting, Cao Ruiming, Ren Chunming, Lei Xia |
[Characterization of genetic variants in children with refractory epilepsy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 9 40 (10): 1204-1210. Kaixuan Wang, Dandan Cai, Fang Sheng, Dayan Wang, Xubo Qian, Jing Zhang, Xueyan Jiang, Lidan Xu, Yanting |
[Genetic analysis of a child with Focal segmental glomerulosclerosis and neurodevelopmental syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 8 40 (9): 1155-1159. Xuhui Sun, Min Xin, Jingmei Tian, Yingying Zhang, Qinqin Jiao, Yong Yang, Jinxiu L |
NEXMIF variants are associated with epilepsy with or without intellectual disability. Seizure 2023 8 . Zi-Long Ye, Hong-Jun Yan, Qing-Hui Guo, Shu-Qian Zhang, Sheng Luo, Ya-Jun Lian, Yun-Qing Ma, Xin-Guo Lu, Xiao-Rong Liu, Nan-Xiang Shen, Liang-Di Gao, Zheng Chen, Yi-Wu S |
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
ATP6V1A variants are associated with childhood epilepsy with favorable outcome. Seizure 2023 8 . Bin Li, Song Lan, Xiao-Rong Liu, Jing-Jing Ji, Yun-Yan He, Dong-Ming Zhang, Jie Xu, Hui Sun, Zhen Shi, Jie Wang, Yang Ti |
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage. Seizure 2023 3 . Zou Dong-Fang, Li Xiao-Yan, Lu Xin-Guo, Wang Huai-Li, Song Wang, Zhang Meng-Wen, Liu Xiao-Rong, Li Bing-Mei, Liao Jian-Xiang, Zhong Jian-Min, Meng Heng, Li B |
Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in neurology 2023 12 14 1276238. Maximilian G W Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht, Teresa M Neuha |
Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy. Frontiers in molecular neuroscience 2023 1 15 1081097. Yan Hong-Jun, He Yun-Yan, Jin Liang, Guo Qiang, Zhou Jing-Hua, Luo She |
CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. Clinical genetics 2024 1 . Yu-Jie Chen, Wen-Jie Wang, Dong-Fang Zou, Jun-Xia Luo, Pei-Yan Jin, Liang Jin, Xiao-Rong Liu, Wei-Ping Liao, Bin Li, Yong-Jun Chen, |
Genotype and phenotype correlation of PHACTR1-related neurological disorders. Journal of medical genetics 2024 1 . Zhao Xu, Lynette Sadleir, Himanshu Goel, Xianru Jiao, Yue Niu, Zongpu Zhou, Guillem de Valles-Ibáñez, Gemma Poke, Michael Hildebrand, Nico Lieffering, Jiong Qin, Zhixian Ya |
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