Human Genome Epidemiology Literature Finder
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Records 1 - 17 (of 17 Records) |
| Query Trace: Epilepsy and DEPDC5[original query] |
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| Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of neurology 2015 Dec . Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of neurology 2015 Oct . Ricos Michael G, Hodgson Bree L, Pippucci Tommaso, Saidin Akzam, Sze Ong Yeh, Heron Sarah E, Licchetta Laura, Bisulli Francesca, Bayly Marta A, Hughes James, Baldassari Sara, Palombo Flavia, , Santucci Margherita, Meletti Stefano, Berkovic Samuel F, Rubboli Guido, Thomas Paul Q, Scheffer Ingrid E, Tinuper Paolo, Geoghegan Joel, Schreiber Andreas W, Dibbens Leanne |
| Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Annals of neurology 2015 Apr 77 (4): 720-5. D'Gama Alissa M, Geng Ying, Couto Javier A, Martin Beth, Boyle Evan A, LaCoursiere Christopher M, Hossain Amer, Hatem Nicole E, Barry Brenda J, Kwiatkowski David J, Vinters Harry V, Barkovich A James, Shendure Jay, Mathern Gary W, Walsh Christopher A, Poduri Annapur |
| Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel. Frontiers in neurology 2018 7 9 515. Tsai Meng-Han, Chan Chung-Kin, Chang Ying-Chao, Lin Chih-Hsiang, Liou Chia-Wei, Chang Wen-Neng, Ng Ching-Ching, Lim Kheng-Seang, Hwang Daw-Ya |
| Precise detection of low-level somatic mutation in resected epilepsy brain tissue. Acta neuropathologica 2019 Aug . Sim Nam Suk, Ko Ara, Kim Woo Kyeong, Kim Se Hoon, Kim Ju Seong, Shim Kyu-Won, Aronica Eleonora, Mijnsbergen Caroline, Spliet Wim G M, Koh Hyun Yong, Kim Heung Dong, Lee Joon Soo, Kim Dong Seok, Kang Hoon-Chul, Lee Jeong |
| 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, |
| 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 |
| High genetic burden in 163 Chinese children with status epilepticus. Seizure 2020 12 84 40-46. Wang Tianqi, Wang Ji, Ma Yu, Zhou Hao, Ding Ding, Li Chunpei, Du Xiaonan, Jiang Yong-Hui, Wang Yi, Long Shasha, Li Shuang, Lu Guoping, Chen Weiming, Zhou Yuanfeng, Zhou Shuizhen, Wang |
| Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy. Annals of clinical and translational neurology 2021 May . Wolking Stefan, Moreau Claudia, McCormack Mark, Krause Roland, Krenn Martin, , Berkovic Samuel, Cavalleri Gianpiero L, Delanty Norman, Depondt Chantal, Johnson Michael R, Koeleman Bobby P C, Kunz Wolfram S, Lerche Holger, Marson Anthony G, O'Brien Terence J, Petrovski Slave, Sander Josemir W, Sills Graeme J, Striano Pasquale, Zara Federico, Zimprich Fritz, Sisodiya Sanjay M, Girard Simon L, Cossette Patri |
| Epilepsy with auditory features: Contribution of known genes in 112 patients. Seizure 2021 1 85 115-118. Bisulli F, Rinaldi C, Pippucci T, Minardi R, Baldassari S, Zenesini C, Mostacci B, Fanella M, Avoni P, Menghi V, Caporali L, Muccioli L, Tinuper P, Licchetta |
| Genetic and molecular features of seizure-freedom following surgical resections for focal epilepsy: A pilot study. Frontiers in neurology 2022 10 13 942643. Louis Shreya, Busch Robyn M, Lal Dennis, Hockings Jennifer, Hogue Olivia, Morita-Sherman Marcia, Vegh Deborah, Najm Imad, Ghosh Chaitali, Bazeley Peter, Eng Charis, Jehi Lara, Rotroff Daniel |
| Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup. Brain communications 2023 6 5 (3): fcad174. Rayann Checri, Mathilde Chipaux, Sarah Ferrand-Sorbets, Emmanuel Raffo, Christine Bulteau, Sarah Dominique Rosenberg, Marion Doladilhe, Georg Dorfmüller, Homa Adle-Biassette, Sara Baldassari, Stéphanie Baul |
| Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Brain : a journal of neurology 2023 4 . Martins Custodio Helena, Clayton Lisa M, Bellampalli Ravishankara, Pagni Susanna, Silvennoinen Katri, Caswell Richard, , Brunklaus Andreas, Guerrini Renzo, Koeleman Bobby P C, Lemke Johannes R, Møller Rikke S, Scheffer Ingrid E, Weckhuysen Sarah, Zara Federico, Zuberi Sameer, Kuchenbaecker Karoline, Balestrini Simona, Mills James D, Sisodiya Sanjay |
| The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2023 12 . Authors are not available |
| Clinical and genetic features of GATOR1 complex-associated epilepsy. Journal of medical genetics 2023 1 . Yin Kaili, Lei Xingxing, Yan Zhaofen, Yang Yujiao, Deng Qinqin, Lu Qiang, Zhang Xue, Wang Mengyang, Liu Qi |
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