Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 44 Records) |
Query Trace: CDKL5[original query] |
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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 |
Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys. Epilepsia 2014 Nov 55 (11): 1748-53. Mei Davide, Darra Francesca, Barba Carmen, Marini Carla, Fontana Elena, Chiti Laura, Parrini Elena, Dalla Bernardina Bernardo, Guerrini Ren |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
There is variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of neurodevelopmental disorders 2015 7 (1): 2. Fehr Stephanie, Leonard Helen, Ho Gladys, Williams Simon, de Klerk Nick, Forbes David, Christodoulou John, Downs Jen |
Thyroid function in Rett syndrome. Hormone research in paediatrics 2015 83 (2): 118-25. Stagi Stefano, Cavalli Loredana, Congiu Laura, Scusa Maria Flora, Ferlini Alessandra, Bigoni Stefania, Benincasa Alberto, Rossi Bruno, Pini Giorg |
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia biologica 2016 62 (2): 67-74. Záhoráková D, Langová M, Brožová K, Lašt?vková J, Kalina Z, Rennerová L, Martásek |
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May . Sajan Samin A, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R, Glaze Daniel G, Kaufmann Walter E, Skinner Steven A, Annese Fran, Friez Michael J, Lane Jane, Percy Alan K, Neul Jeffrey |
Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. Human genome variation 2016 4 2 15042. Yamamoto Toshiyuki, Shimojima Keiko, Kimura Nobusuke, Mogami Yukiko, Usui Daisuke, Takayama Rumiko, Ikeda Hiroko, Imai Katsu |
Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet journal of rare diseases 2016 11 (1): 39. Mangatt Meghana, Wong Kingsley, Anderson Barbara, Epstein Amy, Hodgetts Stuart, Leonard Helen, Downs Jen |
De novo genic mutations among a Chinese autism spectrum disorder cohort. Nature communications 2016 Nov 7 13316. Wang Tianyun, Guo Hui, Xiong Bo, Stessman Holly A F, Wu Huidan, Coe Bradley P, Turner Tychele N, Liu Yanling, Zhao Wenjing, Hoekzema Kendra, Vives Laura, Xia Lu, Tang Meina, Ou Jianjun, Chen Biyuan, Shen Yidong, Xun Guanglei, Long Min, Lin Janice, Kronenberg Zev N, Peng Yu, Bai Ting, Li Honghui, Ke Xiaoyan, Hu Zhengmao, Zhao Jingping, Zou Xiaobing, Xia Kun, Eichler Evan |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular syndromology 2016 Sep 7 (4): 210-219. Møller Rikke S, Larsen Line H G, Johannesen Katrine M, Talvik Inga, Talvik Tiina, Vaher Ulvi, Miranda Maria J, Farooq Muhammad, Nielsen Jens E K, Svendsen Lene Lavard, Kjelgaard Ditte B, Linnet Karen M, Hao Qin, Uldall Peter, Frangu Mimoza, Tommerup Niels, Baig Shahid M, Abdullah Uzma, Born Alfred P, Gellert Pia, Nikanorova Marina, Olofsson Kern, Jepsen Birgit, Marjanovic Dragan, Al-Zehhawi Lana I K, Peñalva Sofia J, Krag-Olsen Bente, Brusgaard Klaus, Hjalgrim Helle, Rubboli Guido, Pal Deb K, Dahl Hans |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. Clinical genetics 2016 Oct . Zhang Qingping, Li Jiarui, Zhao Ying, Bao Xinhua, Wei Liping, Wang Jiapi |
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder. Neurology 2016 Oct . Fehr Stephanie, Wong Kingsley, Chin Richard, Williams Simon, de Klerk Nick, Forbes David, Krishnaraj Rahul, Christodoulou John, Downs Jenny, Leonard Hel |
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP. PloS one 2017 12 12 (12): e0189618. Coll Monica, Striano Pasquale, Ferrer-Costa Carles, Campuzano Oscar, Matés Jesús, Del Olmo Bernat, Iglesias Anna, Pérez-Serra Alexandra, Mademont Irene, Picó Ferran, Oliva Antonio, Brugada Ram |
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific reports 2017 Jan 7 40319. Wang Yimin, Du Xiaonan, Bin Rao, Yu Shanshan, Xia Zhezhi, Zheng Guo, Zhong Jianmin, Zhang Yunjian, Jiang Yong-Hui, Wang |
The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. Frontiers in neurology 2018 9 530. Ko Ara, Jung Da E, Kim Se H, Kang Hoon-Chul, Lee Joon S, Lee Seung T, Choi Jong R, Kim Heung |
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 |
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia open 2018 3 2 (2): 236-243. Fung Cheuk-Wing, Kwong Anna Ka-Yee, Wong Virginia Chun-N |
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2018 11 21 (6): 1330-1338. Zhang Qingping, Yang Xiaoxu, Wang Jiaping, Li Jiarui, Wu Qixi, Wen Yongxin, Zhao Ying, Zhang Xiaoying, Yao He, Wu Xiru, Yu Shujie, Wei Liping, Bao Xinh |
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genetics in medicine : official journal of the American College of Medical Genetics 2019 5 21 (11): 2496-2503. Heyne Henrike O, Artomov Mykyta, Battke Florian, Bianchini Claudia, Smith Douglas R, Liebmann Nora, Tadigotla Vasisht, Stanley Christine M, Lal Dennis, Rehm Heidi, Lerche Holger, Daly Mark J, Helbig Ingo, Biskup Saskia, Weber Yvonne G, Lemke Johannes |
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 |
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways. Omics : a journal of integrative biology 2020 2 24 (3): 160-171. Aldosary Mazhor, Al-Bakheet AlBandary, Al-Dhalaan Hesham, Almass Rawan, Alsagob Maysoon, Al-Younes Banan, AlQuait Laila, Mustafa Osama Mufid, Bulbul Mustafa, Rahbeeni Zuhair, Alfadhel Majid, Chedrawi Aziza, Al-Hassnan Zuhair, AlDosari Mohammed, Al-Zaidan Hamad, Al-Muhaizea Mohammad A, AlSayed Moeenaldeen D, Salih Mustafa A, AlShammari Mai, Faiyaz-Ul-Haque Muhammad, Chishti Mohammad Azhar, Al-Harazi Olfat, Al-Odaib Ali, Kaya Namik, Colak Dil |
Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clinical genetics 2020 Oct . MacKay Conor I, Wong Kingsley, Demarest Scott T, Benke Tim A, Downs Jenny, Leonard Hel |
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Molecular genetics & genomic medicine 2021 5 9 (6): e1689. Liu Liying, Liu Fang, Wang Qiuhong, Xie Hua, Li Zhengchang, Lu Qian, Wang Yangyang, Zhang Mengna, Zhang Yu, Picker Jonathan, Cui Xiaodai, Zou Liping, Chen Xiao |
Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort. Epilepsy & behavior : E&B 2021 May 118 107946. Aledo-Serrano Ángel, Gómez-Iglesias Patricia, Toledano Rafael, Garcia-Peñas Juan Jose, Garcia-Morales Irene, Anciones Carla, Soto-Insuga Victor, Benke Timothy A, Del Pino Isabel, Gil-Nagel Anton |
Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology. Frontiers in pediatrics 2022 4 10 842666. Wang Jun, Zhang Jie, Yang Ying, Gao Kai, Wu Ye, Zhang Yuehua, Jiang Yu |
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. American journal of medical genetics. Part A 2022 11 191 (2): 510-517. Mainali Apurba, Athey Taryn, Bahl Shalini, Hung Clara, Caluseriu Oana, Chan Alicia, Eaton Alison, Ghai Shailly Jain, Kannu Peter, MacPherson Melissa, Niederhoffer Karen Y, Siriwardena Komudi, Mercimek-Andrews Saad |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
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- Page last updated:Apr 29, 2024
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