HuGE Literature Finder
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| CHD2-related epilepsy: novel mutations and new phenotypes. Developmental medicine and child neurology 2019 11 62 (5): 647-653. Chen Jiaoyang, Zhang Jing, Liu Aijie, Zhang Liping, Li Hua, Zeng Qi, Yang Zhixian, Yang Xiaoling, Wu Xiru, Zhang Yueh |
| 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 |
| 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 |
| CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain : a journal of neurology 2015 May 138 (Pt 5): 1198-207. Galizia Elizabeth C, Myers Candace T, Leu Costin, de Kovel Carolien G F, Afrikanova Tatiana, Cordero-Maldonado Maria Lorena, Martins Teresa G, Jacmin Maxime, Drury Suzanne, Krishna Chinthapalli V, Muhle Hiltrud, Pendziwiat Manuela, Sander Thomas, Ruppert Ann-Kathrin, Møller Rikke S, Thiele Holger, Krause Roland, Schubert Julian, Lehesjoki Anna-Elina, Nürnberg Peter, Lerche Holger, , Palotie Aarno, Coppola Antonietta, Striano Salvatore, Gaudio Luigi Del, Boustred Christopher, Schneider Amy L, Lench Nicholas, Jocic-Jakubi Bosanka, Covanis Athanasios, Capovilla Giuseppe, Veggiotti Pierangelo, Piccioli Marta, Parisi Pasquale, Cantonetti Laura, Sadleir Lynette G, Mullen Saul A, Berkovic Samuel F, Stephani Ulrich, Helbig Ingo, Crawford Alexander D, Esguerra Camila V, Kasteleijn-Nolst Trenité Dorothee G A, Koeleman Bobby P C, Mefford Heather C, Scheffer Ingrid E, Sisodiya Sanjay |
| Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature communications 2014 5 5595. O'Roak B J, Stessman H A, Boyle E A, Witherspoon K T, Martin B, Lee C, Vives L, Baker C, Hiatt J B, Nickerson D A, Bernier R, Shendure J, Eichler E |
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