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Genomic analysis of "microphenotypes" in epilepsy.
Stanley K, Hostyk J, Tran L, Amengual-Gual M, Dugan P, Clark J, Choi H, Tchapyjnikov D, Perucca P, Fernandes C, Andrade D, Devinsky O; pSERG Consortium, the EPIGEN Consortium; Cavalleri GL, Depondt C, Sen A, O'Brien T, Heinzen E, Loddenkemper T, Goldstein DB, Mikati MA, Delanty N. Stanley K, et al. Among authors: o brien t, devinsky o. Am J Med Genet A. 2022 Jan;188(1):138-146. doi: 10.1002/ajmg.a.62505. Epub 2021 Sep 27. Am J Med Genet A. 2022. PMID: 34569149
Epilepsy: Guidelines on vagus nerve stimulation for epilepsy.
Dugan P, Devinsky O. Dugan P, et al. Among authors: devinsky o. Nat Rev Neurol. 2013 Nov;9(11):611-2. doi: 10.1038/nrneurol.2013.211. Epub 2013 Oct 15. Nat Rev Neurol. 2013. PMID: 24126624 No abstract available.
Mosaic mutations in early-onset genetic diseases.
Halvorsen M, Petrovski S, Shellhaas R, Tang Y, Crandall L, Goldstein D, Devinsky O. Halvorsen M, et al. Among authors: devinsky o. Genet Med. 2016 Jul;18(7):746-9. doi: 10.1038/gim.2015.155. Epub 2015 Dec 30. Genet Med. 2016. PMID: 26716362 Free PMC article.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, Dolzhanskaya N, Marsh E, Helbig I, Devinsky O, Tang S, Mefford HC, Myers CT, van Paesschen W, Striano P, van Gassen K, van Kempen M, de Kovel CG, Piard J, Minassian BA, Nezarati MM, Pessoa A, Jacquette A, Maher B, Balestrini S, Sisodiya S, Warde MT, De St Martin A, Chelly J; EuroEPINOMICS-RES MAE working group; van 't Slot R, Van Maldergem L, Brilstra EH, Koeleman BP. de Lange IM, et al. Among authors: devinsky o. J Med Genet. 2016 Dec;53(12):850-858. doi: 10.1136/jmedgenet-2016-103909. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358180 Free PMC article.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. Among authors: devinsky o. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487
812 results