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Page 1
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: wirrell e. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Delivery of epilepsy care to adults with intellectual and developmental disabilities.
Devinsky O, Asato M, Camfield P, Geller E, Kanner AM, Keller S, Kerr M, Kossoff EH, Lau H, Kothare S, Singh BK, Wirrell E. Devinsky O, et al. Among authors: wirrell e. Neurology. 2015 Oct 27;85(17):1512-21. doi: 10.1212/WNL.0000000000002060. Epub 2015 Sep 30. Neurology. 2015. PMID: 26423430 Free PMC article. Review.
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study; Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE. Sadleir LG, et al. Among authors: wirrell e. Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794249 Free PMC article.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: wirrell e. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
Response to treatment in a prospective national infantile spasms cohort.
Knupp KG, Coryell J, Nickels KC, Ryan N, Leister E, Loddenkemper T, Grinspan Z, Hartman AL, Kossoff EH, Gaillard WD, Mytinger JR, Joshi S, Shellhaas RA, Sullivan J, Dlugos D, Hamikawa L, Berg AT, Millichap J, Nordli DR Jr, Wirrell E; Pediatric Epilepsy Research Consortium. Knupp KG, et al. Among authors: wirrell e. Ann Neurol. 2016 Mar;79(3):475-84. doi: 10.1002/ana.24594. Epub 2016 Feb 13. Ann Neurol. 2016. PMID: 26704170 Free PMC article. Clinical Trial.
Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry.
deVeber GA, Kirton A, Booth FA, Yager JY, Wirrell EC, Wood E, Shevell M, Surmava AM, McCusker P, Massicotte MP, MacGregor D, MacDonald EA, Meaney B, Levin S, Lemieux BG, Jardine L, Humphreys P, David M, Chan AK, Buckley DJ, Bjornson BH. deVeber GA, et al. Among authors: wirrell ec. Pediatr Neurol. 2017 Apr;69:58-70. doi: 10.1016/j.pediatrneurol.2017.01.016. Epub 2017 Jan 26. Pediatr Neurol. 2017. PMID: 28254555
Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut Syndrome.
Devinsky O, Patel AD, Cross JH, Villanueva V, Wirrell EC, Privitera M, Greenwood SM, Roberts C, Checketts D, VanLandingham KE, Zuberi SM; GWPCARE3 Study Group. Devinsky O, et al. Among authors: wirrell ec. N Engl J Med. 2018 May 17;378(20):1888-1897. doi: 10.1056/NEJMoa1714631. N Engl J Med. 2018. PMID: 29768152 Free article. Clinical Trial.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
286 results