Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Epilepsy and FOXG1[original query] |
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Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy & behavior : E&B 2010 Nov 19 (3): 296-300. Pintaudi Maria, Calevo Maria Grazia, Vignoli Aglaia, Parodi Elena, Aiello Francesca, Baglietto Maria Giuseppina, Hayek Yussef, Buoni Sabrina, Renieri Alessandra, Russo Silvia, Cogliati Francesca, Giordano Lucio, Canevini Mariapaola, Veneselli Edvi |
Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. Gene 2012 Dec . Das DK, Raha S, Sanghavi D, Maitra A, Udani V |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25. Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur |
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. BMC medical genetics 2017 8 18 (1): 96. Zhang Qingping, Wang Jiaping, Li Jiarui, Bao Xinhua, Zhao Ying, Zhang Xiaoying, Wei Liping, Wu Xi |
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 |
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet journal of rare diseases 2023 6 18 (1): 149. Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov, Xilma R Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, |
Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study. Epilepsy research 2024 7 205 107399. Nihal Y?ld?z, Esra Serdaro?lu, P?nar Özkan Kart, Seyda Besen, Seda Kanmaz, Dilara Ece Toprak, Betul Kilic, Ozlem Ersoy, P?nar Gencpinar, Nihal Olgac Dundar, Cetin Okuyaz, Ayse Serdaroglu, Kursat Bora Carman, Co?kun Yarar, Bar?? Ekici, Burak Tatl?, ?lknur Erol, Kür?ad Ayd?n, Hasan Tekgül, Ali Can |
Identification of potential crucial genes and therapeutic targets for epilepsy. European journal of medical research 2024 1 29 (1): 43. Shitao Wang, Zhenrong Xie, Tian Jun, Xuelu Ma, Mengen Zhang, Feng Rao, Hui Xu, Jinghong Lu, Xiangqian Ding, Zongyou |
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