Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Epilepsy and CACNA1A[original query] |
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Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy. Epilepsy research 2002 Apr 49 (2): 173-7. Sander Thomas, Toliat Mohammad R, Heils Armin, Becker Christian, Nürnberg Pet |
Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population. Seizure 2015 Aug 30 64-9. Lv Nan, Qu Jian, Long Hongyu, Zhou Luo, Cao Yuze, Long Lili, Liu Zhaoqian, Xiao |
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 |
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications. Cephalalgia : an international journal of headache 2017 1 38 (2): 361-373. Prontera P, Sarchielli P, Caproni S, Bedetti C, Cupini L M, Calabresi P, Costa |
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 |
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PloS one 2018 13 (6): e0199321. Lee Cha Gon, Lee Jeehun, Lee Munhya |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly. Molecular genetics & genomic medicine 2019 10 8 (1): e992. Meloche Jolyane, Brunet Vanessa, Gagnon Pierre-Alexandre, Lavoie Marie-Ève, Bouchard Jean-Benoît, Nadaf Javad, Majewski Jacek, Morin Charles, Laprise Catheri |
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 |
Clinical phenotypes of infantile onset CACNA1A-related disorder. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 12 30 144-154. Gur-Hartman Tamar, Berkowitz Oren, Yosovich Keren, Roubertie Agathe, Zanni Ginevra, Macaya Alfons, Heimer Gali, Dueñas Belén Pérez, Sival Deborah A, Pode-Shakked Ben, López-Laso Eduardo, Humbertclaude Véronique, Riant Florence, Bosco Luca, Cayron Lital Bachar, Nissenkorn Andreea, Nicita Francesco, Bertini Enrico, Hassin Sharon, Ben Zeev Bruria, Zerem Ayelet, Libzon Stephanie, Lev Dorit, Linder Ilan, Lerman-Sagie Tally, Blumkin Lub |
Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats. Neurochemistry international 2020 10 141 104859. Ohmori Iori, Kobayashi Kiyoka, Ouchida Mamo |
Epilepsy in patients with familial hemiplegic migraine. Seizure 2021 4 88 87-94. Has?rc? Bay?r Buse Rahime, Tutkavul Kemal, Eser Metin, Baykan Bet |
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. Neurology 2021 10 98 (1): e51-e61. Riant Florence, Roos Caroline, Roubertie Agathe, Barbance Cécile, Hadjadj Jessica, Auvin Stéphane, Baille Guillaume, Beltramone Marion, Boulanger Cécile, Cahn Alice, Cata Florina, Cheuret Emmanuel, Cuvellier Jean-Christophe, Defo Antoine, Demarquay Genevieve, Donnet Anne, Gaillard Nicolas, Massardier Evelyne, Guy Nathalie, Lamoureux Sylvie, Le Moigno Laurence, Lucas Christian, Ratiu Diana, Redon Sylvain, Rey Caroline, Thauvin Christel, Viallet François, Tournier-Lasserve Elisabeth, Ducros An |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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