Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: Disease and SCN8A[original query] |
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| Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. Parkinsonism & related disorders 2009 May 15 (4): 321-3. Sharkey Lisa M, Jones Julie M, Hedera Peter, Meisler Miriam |
| 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 |
| 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 |
| 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 |
| 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 |
| Evidence for involvement of the alcohol consumption WDPCP gene in lipid metabolism, and liver cirrhosis. Scientific reports 2023 11 13 (1): 20616. Felix O'Farrell, Benjamin Aleyakpo, Rima Mustafa, Xiyun Jiang, Rui Climaco Pinto, Paul Elliott, Ioanna Tzoulaki, Abbas Dehghan, Samantha H Y Loh, Jeff W Barclay, L Miguel Martins, Raha Pazo |
| Genome-wide association analysis and admixture mapping in a Puerto Rican cohort supports an Alzheimer disease risk locus on chromosome 12. Frontiers in aging neuroscience 2024 9 16 1459796. Bilcag Akgun, Briseida E Feliciano-Astacio, Kara L Hamilton-Nelson, Kyle Scott, Joe Rivero, Larry D Adams, Jose J Sanchez, Glenies S Valladares, Sergio Tejada, Parker L Bussies, Concepcion Silva-Vergara, Vanessa C Rodriguez, Pedro R Mena, Katrina Celis, Patrice G Whitehead, Michael Prough, Christina Kosanovic, Derek J Van Booven, Michael A Schmidt, Heriberto Acosta, Anthony J Griswold, Clifton L Dalgard, Katalina F McInerney, Gary W Beecham, Michael L Cuccaro, Jeffery M Vance, Margaret A Pericak-Vance, Farid Rajab |
| Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population. Journal of human genetics 2024 6 . Rui Dong, Ruifeng Jin, Hongwei Zhang, Haiyan Zhang, Min Xue, Yue Li, Kaihui Zhang, Yuqiang Lv, Xiaoying Li, Yi Liu, Zhongtao G |
- Page last reviewed:Feb 1, 2024
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