HuGE Literature Finder
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| 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 |
| 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-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 |
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