Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Abnormalities and SCN1A[original query] |
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Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004 Feb 45 (2): 140-8. Fukuma Goryu, Oguni Hirokazu, Shirasaka Yukiyoshi, Watanabe Kazuyoshi, Miyajima Tasuku, Yasumoto Sawa, Ohfu Masaharu, Inoue Takahito, Watanachai Aruchalean, Kira Ryutaro, Matsuo Muneaki, Muranaka Hideki, Sofue Fumiko, Zhang Bo, Kaneko Sunao, Mitsudome Akihisa, Hirose Shinic |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009 Jul 50 (7): 1670-8. Marini Carla, Scheffer Ingrid E, Nabbout Rima, Mei Davide, Cox Kathy, Dibbens Leanne M, McMahon Jacinta M, Iona Xenia, Carpintero Rochio Sanchez, Elia Maurizio, Cilio Maria Roberta, Specchio Nicola, Giordano Lucio, Striano Pasquale, Gennaro Elena, Cross J Helen, Kivity Sara, Neufeld Miriam Y, Afawi Zaid, Andermann Eva, Keene Daniel, Dulac Olivier, Zara Federico, Berkovic Samuel F, Guerrini Renzo, Mulley John |
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 |
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. Stem cell reports 2018 8 11 (3): 626-634. Frasier Chad R, Zhang Helen, Offord James, Dang Louis T, Auerbach David S, Shi Huilin, Chen Chunling, Goldman Alica M, Eckhardt L Lee, Bezzerides Vassilios J, Parent Jack M, Isom Lori |
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. Epilepsy research 2019 10 168 106211. Oesch Gabriela, Bozarth Xiuhua Lia |
Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgia. Pain 2020 9 161 (10): 2385-2393. Fasolino Alessandra, Di Stefano Giulia, Leone Caterina, Galosi Eleonora, Gioia Chiara, Lucchino Bruno, Terracciano Alessandra, Di Franco Manuela, Cruccu Giorgio, Truini Andr |
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 |
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 |
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 |
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
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 |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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- Page last updated:Apr 16, 2024
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