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| 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 |
| 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 |
| Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. Nucleic acids research 2020 1 48 (5): 2372-2387. Halmai Julian A N M, Deng Peter, Gonzalez Casiana E, Coggins Nicole B, Cameron David, Carter Jasmine L, Buchanan Fiona K B, Waldo Jennifer J, Lock Samantha R, Anderson Johnathon D, O'Geen Henriette, Segal David J, Nolta Jan, Fink Kyle |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia 2011 1 51 (12): 2449-52. Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyu |
| 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 |
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010 Apr 51 (4): 647-54. Mei Davide, Marini Carla, Novara Francesca, Bernardina Bernardo D, Granata Tiziana, Fontana Elena, Parrini Elena, Ferrari Anna R, Murgia Alessandra, Zuffardi Orsetta, Guerrini Ren |
| 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 |
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 2009 Jul 10 (3): 241-50. Russo S, Marchi M, Cogliati F, Bonati M T, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza |
| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Journal of medical genetics 2006 Sep 43 (9): 729-34. Archer H L, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne |
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- Page last updated:Mar 22, 2023
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