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Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Corbett MA, et al. Among authors: gazina ev. Neurology. 2016 Nov 8;87(19):1975-1984. doi: 10.1212/WNL.0000000000003309. Epub 2016 Oct 12. Neurology. 2016. PMID: 27733563 Free PMC article.
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S. Milligan CJ, et al. Among authors: gazina ev. Ann Neurol. 2014 Apr;75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14. Ann Neurol. 2014. PMID: 24591078 Free PMC article.
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: gazina ev. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. Neurology. 2014. PMID: 24623842 Free PMC article.
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. Hildebrand MS, et al. Among authors: gazina ev. Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029629 Free PMC article.
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. Hildebrand MS, et al. Among authors: gazina ev. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3. Ann Clin Transl Neurol. 2015. PMID: 26339676 Free PMC article.
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R, Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH, Topf M, Petrou S, Kurian MA. McTague A, et al. Among authors: gazina ev. Neurology. 2018 Jan 2;90(1):e55-e66. doi: 10.1212/WNL.0000000000004762. Epub 2017 Dec 1. Neurology. 2018. PMID: 29196579 Free PMC article.
Development of a rapid functional assay that predicts GLUT1 disease severity.
Zaman SM, Mullen SA, Petrovski S, Maljevic S, Gazina EV, Phillips AM, Jones GD, Hildebrand MS, Damiano J, Auvin S, Lerche H, Weber YG, Berkovic SF, Scheffer IE, Reid CA, Petrou S. Zaman SM, et al. Among authors: gazina ev. Neurol Genet. 2018 Dec 6;4(6):e297. doi: 10.1212/NXG.0000000000000297. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30588498 Free PMC article.
34 results