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

Year Number of Results
1994 1
1995 2
1996 1
1998 3
1999 1
2001 2
2004 2
2005 4
2006 3
2007 5
2008 2
2009 3
2010 3
2011 2
2012 3
2013 6
2014 4
2015 1
2016 5
2017 11
2018 8
2019 7
2020 2
2021 5
2022 6
2023 7
2024 2

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90 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.
Epilepsy: Advances in genetics and pathophysiology.
Mantegazza M. Mantegazza M. Neurosci Lett. 2018 Feb 22;667:1-3. doi: 10.1016/j.neulet.2017.10.026. Epub 2017 Oct 18. Neurosci Lett. 2018. PMID: 29054433 No abstract available.
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.
Post-translational dysfunctions in channelopathies of the nervous system.
Terragni B, Scalmani P, Franceschetti S, Cestèle S, Mantegazza M. Terragni B, et al. Among authors: mantegazza m. Neuropharmacology. 2018 Apr;132:31-42. doi: 10.1016/j.neuropharm.2017.05.028. Epub 2017 May 29. Neuropharmacology. 2018. PMID: 28571716 Review.
90 results