Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Epilepsy and KCNT1[original query] |
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Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. CNS neuroscience & therapeutics 2013 Nov . Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, Yin JY, He H, Li XP, Long HY, Lv N, Xu XJ, Xiao B, Zhang Y, Tang Q, Hu DL, Zhou HH, Liu ZQ |
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 |
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology 2017 12 90 (1): e55-e66. McTague Amy, Nair Umesh, Malhotra Sony, Meyer Esther, Trump Natalie, Gazina Elena V, Papandreou Apostolos, Ngoh Adeline, Ackermann Sally, Ambegaonkar Gautam, Appleton Richard, Desurkar Archana, Eltze Christin, Kneen Rachel, Kumar Ajith V, Lascelles Karine, Montgomery Tara, Ramesh Venkateswaran, Samanta Rajib, Scott Richard H, Tan Jeen, Whitehouse William, Poduri Annapurna, Scheffer Ingrid E, Chong W K Kling, Cross J Helen, Topf Maya, Petrou Steven, Kurian Manju |
Precision therapy for epilepsy due to KCNT1 mutations: A randomized trial of oral quinidine. Neurology 2017 12 90 (1): e67-e72. Mullen Saul A, Carney Patrick W, Roten Annie, Ching Michael, Lightfoot Paul A, Churilov Leonid, Nair Umesh, Li Melody, Berkovic Samuel F, Petrou Steven, Scheffer Ingrid |
[Genetic and clinical analysis of children with early-onset epilepsy encephalopathy caused by KCNT1 gene mutation]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 11 56 (11): 824-828. Chen Y, Bao X H, Zhang Q P, Wang J P, Wen Y X, Yu S J, Zhao |
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 |
Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. Annals of clinical and translational neurology 2019 3 6 (2): 386-391. Rubboli Guido, Plazzi Giuseppe, Picard Fabienne, Nobili Lino, Hirsch Edouard, Chelly Jamel, Prayson Richard A, Boutonnat Jean, Bramerio Manuela, Kahane Philippe, Dibbens Leanne M, Gardella Elena, Baulac Stéphanie, Møller Rikke |
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, |
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy. European journal of medical genetics 2020 1 63 (4): 103848. Vetri Luigi, Calì Francesco, Vinci Mirella, Amato Carmelo, Roccella Michele, Granata Tiziana, Freri Elena, Solazzi Roberta, Romano Valentino, Elia Mauriz |
[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 |
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures. Scientific reports 2022 Jun 12 (1): 10187. Yang Haiyan, Yang Xiaofan, Cai Fang, Gan Siyi, Yang Sai, Wu Liw |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
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- Page last updated:Apr 16, 2024
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