Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Epilepsy and SCN8A[original query] |
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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 |
Spectrum of SCN8A-Related Epilepsy. Pediatric neurology briefs 2015 Feb 29 (2): 16. Morgan Lindsey A, Millichap John |
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 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 |
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 |
Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort. Epilepsia 2019 7 60 (8): 1711-1720. Encinas Alejandra C, Moore Ida Ki M, Watkins Joseph C, Hammer Michael |
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 |
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. Epilepsy research 2019 5 154 55-61. Xie Han, Su Wenting, Pei Jinrui, Zhang Yujia, Gao Kai, Li Jinliang, Ma Xiuwei, Zhang Yuehua, Wu Xiru, Jiang Yu |
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 |
A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. BMC pediatrics 2019 11 19 (1): 400. Lin Kao-Min, Su Geng, Wang Fengpeng, Zhang Xiaobin, Wang Yuanqing, Ren Jun, Wang Xin, Yao Yi, Zhou Yi |
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study. Epilepsy research 2019 10 168 106211. Oesch Gabriela, Bozarth Xiuhua Lia |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 2020 2 61 (3): 387-399. Brunklaus Andreas, Du Juanjiangmeng, Steckler Felix, Ghanty Ismael I, Johannesen Katrine M, Fenger Christina Dühring, Schorge Stephanie, Baez-Nieto David, Wang Hao-Ran, Allen Andrew, Pan Jen Q, Lerche Holger, Heyne Henrike, Symonds Joseph D, Zuberi Sameer M, Sanders Stephan, Sheidley Beth R, Craiu Dana, Olson Heather E, Weckhuysen Sarah, DeJonge Peter, Helbig Ingo, Van Esch Hilde, Busa Tiffany, Milh Matthieu, Isidor Bertrand, Depienne Christel, Poduri Annapurna, Campbell Arthur J, Dimidschstein Jordane, Møller Rikke S, Lal Denn |
Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse. Human molecular genetics 2021 Apr . Yu Wenxi, Smolen Corrine E, Hill Sophie F, Meisler Miriam |
Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China. Brain : a journal of neurology 2022 3 145 (4): e28-e30. Johannesen Katrine M, Liu Yuanyuan, Gardella Elena, Lerche Holger, Møller Rikke |
Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China. Brain : a journal of neurology 2022 3 145 (4): e24-e27. Peng Bing-Wei, Tian Yang, Chen Li, Duan Li-Fen, Wang Xiu-Ying, Zhu Hai-Xia, Shi Kai-Li, Zheng Ke-Lu, Shen Hui-Ling, Liang Wei, Li Xiao-Jing, Chen Wen-Xio |
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy. Epilepsia 2023 8 . Kyung Mi Chung, Joshua Hack, Jennifer Andrews, Maureen Galindo-Kelly, John Schreiber, Joseph Watkins, Michael F Hamm |
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- Page last updated:Apr 16, 2024
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