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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
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2005 4
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2007 5
2008 2
2009 3
2010 3
2011 2
2012 4
2013 6
2014 4
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97 results

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Page 1
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: mantegazza m. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
WONOEP appraisal: Targeted therapy development for early onset epilepsies.
Casillas-Espinosa PM, Wong JC, Grabon W, Gonzalez-Ramos A, Mantegazza M, Yilmaz NC, Patel M, Staley K, Sankar R, O'Brien TJ, Akman Ö, Balagura G, Numis AL, Noebels JL, Baulac S, Auvin S, Henshall DC, Galanopoulou AS. Casillas-Espinosa PM, et al. Among authors: mantegazza m. Epilepsia. 2025 Feb;66(2):328-340. doi: 10.1111/epi.18187. Epub 2024 Nov 19. Epilepsia. 2025. PMID: 39560633 Review.
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S, Cestèle S, Trivisano M, Kassabian B, Leroudier N, Vittorini R, Nosadini M, Cesaroni E, Siliquini S, Marinaccio C, Longaretti F, Podestà B, Operto FF, Luisi C, Sartori S, Boniver C, Specchio N, Vigevano F, Marini C, Mantegazza M. Matricardi S, et al. Among authors: mantegazza m. Epilepsia. 2023 May;64(5):1331-1347. doi: 10.1111/epi.17509. Epub 2023 Jan 26. Epilepsia. 2023. PMID: 36636894 Review.
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M, Cestèle S, Catterall WA. Mantegazza M, et al. Physiol Rev. 2021 Oct 1;101(4):1633-1689. doi: 10.1152/physrev.00025.2020. Epub 2021 Mar 26. Physiol Rev. 2021. PMID: 33769100 Free PMC article. Review.
97 results