Human Genome Epidemiology Literature Finder
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Records 1 - 5 (of 5 Records) |
| Query Trace: Syndrome and KCNT1[original query] |
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| Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia 2015 Sep 56 (9): e114-20. Møller Rikke S, Heron Sarah E, Larsen Line H G, Lim Chiao Xin, Ricos Michael G, Bayly Marta A, van Kempen Marjan J A, Klinkenberg Sylvia, Andrews Ian, Kelley Kent, Ronen Gabriel M, Callen David, McMahon Jacinta M, Yendle Simone C, Carvill Gemma L, Mefford Heather C, Nabbout Rima, Poduri Annapurna, Striano Pasquale, Baglietto Maria G, Zara Federico, Smith Nicholas J, Pridmore Clair, Gardella Elena, Nikanorova Marina, Dahl Hans Atli, Gellert Pia, Scheffer Ingrid E, Gunning Boudewijn, Kragh-Olsen Bente, Dibbens Leanne |
| Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes, brain, and behavior 2018 Jan . Zhou P, He N, Zhang J-W, Lin Z-J, Wang J, Yan L-M, Meng H, Tang B, Li B-M, Liu X-R, Shi Y-W, Zhai Q-X, Yi Y-H, Liao W |
| 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 |
| Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients. Seizure 2019 12 74 60-64. Licchetta Laura, Pippucci Tommaso, Baldassari Sara, Minardi Raffaella, Provini Federica, Mostacci Barbara, Plazzi Giuseppe, Tinuper Paolo, Bisulli Francesca, |
| [Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
- Page last reviewed:Feb 1, 2024
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