Human Genome Epidemiology Literature Finder
|
Records 1 - 27 (of 27 Records) |
| Query Trace: Epilepsy and MECP2[original query] |
|---|
| Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 2002 Apr 33 (2): 63-8. Huppke P, Held M, Hanefeld F, Engel W, Laccone |
| [Mutation spectrum and genotype-phenotype correlation of MECP2 in patients with Rett syndrome]. No to hattatsu. Brain and development 2002 May 34 (3): 219-23. Kondo Ikuko, Yamagata Hidehi |
| [Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities]. No to hattatsu. Brain and development 2005 Jan 37 (1): 39-45. Miura Kiyokuni, Kumagai Toshiyuki, Suzuki Yoshiko, Ohki Takashi, Matsumoto Akiko, Miyazaki Shuji, Hayakawa Chiemi, Sonta Shin-ichi, Yamada Yasukazu, Wakamatsu Nobua |
| Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2008 Nov 119 (11): 2455-8. Buoni Sabrina, Zannolli Raffaella, Felice Claudio De, Saponari Simona, Strambi Mirella, Dotti Maria Teresa, Castrucci Elena, Corbini Letizia, Orsi Alessandra, Hayek Jose |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics 2010 Mar 47 (3): 211-6. Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid |
| 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 |
| Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human mutation 2010 Jun 31 (6): 722-33. Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani |
| Epilepsy in Rett syndrome---the experience of a National Rett Center. Epilepsia 2010 Jul 51 (7): 1252-8. Nissenkorn Andreea, Gak Eva, Vecsler Manuela, Reznik Haia, Menascu Shay, Ben Zeev Brur |
| Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure 2011 Oct 20 (8): 646-9. Cardoza Basil, Clarke Angus, Wilcox Jodie, Gibbon Frances, Smith Phil E M, Archer Hayley, Hryniewiecka-Jaworska Anna, Kerr Mi |
| 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 |
| The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism research : official journal of the International Society for Autism Research 2012 Dec 5 (6): 385-97. Cukier Holly N, Lee Joycelyn M, Ma Deqiong, Young Juan I, Mayo Vera, Butler Brittany L, Ramsook Sandhya S, Rantus Joseph A, Abrams Alexander J, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Haines Jonathan L, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John |
| Using a large international sample to investigate epilepsy in Rett syndrome. Developmental medicine and child neurology 2013 Jun 55 (6): 553-8. Bao Xinhua, Downs Jenny, Wong Kingsley, Williams Simon, Leonard Hel |
| 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 |
| Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia 2015 Apr 56 (4): 569-76. Nissenkorn Andreea, Levy-Drummer Rachel S, Bondi Ori, Renieri Alessandra, Villard Laurent, Mari Francesca, Mencarelli Maria A, Lo Rizzo Caterina, Meloni Ilaria, Pineda Mercedes, Armstrong Judith, Clarke Angus, Bahi-Buisson Nadia, Mejaski Bosnjak Vlatka, Djuric Milena, Craiu Dana, Djukic Alexsandra, Pini Giorgio, Bisgaard Anne Marie, Melegh Bela, Vignoli Aglaia, Russo Silvia, Anghelescu Cristina, Veneselli Edvige, Hayek Joussef, Ben-Zeev Brur |
| 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 |
| 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 |
| Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles. BMC pediatrics 2018 10 18 (1): 333. Keogh Conor, Pini Giorgio, Dyer Adam H, Bigoni Stefania, DiMarco Pietro, Gemo Ilaria, Reilly Richard, Tropea Danie |
| Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel. Journal of human genetics 2019 Aug . Hirabayashi Kyoko, Uehara Daniela Tiaki, Abe Hidetoshi, Ishii Atsushi, Moriyama Keiji, Hirose Shinichi, Inazawa Joh |
| 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 identifies molecular diagnosis in children with drug-resistant epilepsy. Epilepsia open 2019 3 4 (1): 63-72. Tsang Mandy Ho-Yin, Leung Gordon Ka-Chun, Ho Alvin Chi-Chung, Yeung Kit-San, Mak Christopher Chun-Yu, Pei Steven Lim-Cho, Yu Mullin Ho-Chung, Kan Anita Sik-Yau, Chan Kelvin Yuen-Kwong, Kwong Karen Ling, Lee So-Lun, Yung Ada Wing-Yan, Fung Cheuk-Wing, Chung Brian Hon-Y |
| Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 1 73 83-88. Shiohama Tadashi, Levman Jacob, Takahashi E |
| Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy research 2021 1 170 106552. Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| 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 |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| 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 |
- Page last reviewed:Feb 1, 2024
- Content source: