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277 results

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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.
De novo SCN1A mutations in migrating partial seizures of infancy.
Carranza Rojo D, Hamiwka L, McMahon JM, Dibbens LM, Arsov T, Suls A, Stödberg T, Kelley K, Wirrell E, Appleton B, Mackay M, Freeman JL, Yendle SC, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE. Carranza Rojo D, et al. Among authors: wirrell e. Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753172 Free PMC article.
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group. Devinsky O, et al. N Engl J Med. 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. N Engl J Med. 2017. PMID: 28538134 Free article. Clinical Trial.
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.
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.
An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.
Kuchenbuch M, D'Onofrio G, Wirrell E, Jiang Y, Dupont S, Grinspan ZM, Auvin S, Wilmshurst JM, Arzimanoglou A, Cross JH, Specchio N, Nabbout R. Kuchenbuch M, et al. Among authors: wirrell e. Epilepsy Behav. 2020 Nov;112:107376. doi: 10.1016/j.yebeh.2020.107376. Epub 2020 Aug 31. Epilepsy Behav. 2020. PMID: 32882627 Free PMC article.
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.
Lai YC, Muscal E, Wells E, Shukla N, Eschbach K, Hyeong Lee K, Kaliakatsos M, Desai N, Wickström R, Viri M, Freri E, Granata T, Nangia S, Dilena R, Brunklaus A, Wainwright MS, Gorman MP, Stredny CM, Asiri A, Hundallah K, Doja A, Payne E, Wirrell E, Koh S, Carpenter JL, Riviello J. Lai YC, et al. Among authors: wirrell e. Ann Clin Transl Neurol. 2020 Dec;7(12):2467-2474. doi: 10.1002/acn3.51229. Epub 2020 Dec 4. Ann Clin Transl Neurol. 2020. PMID: 33506622 Free PMC article.
277 results