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

Year Number of Results
2001 1
2002 1
2003 4
2004 2
2005 4
2006 12
2007 6
2008 8
2009 20
2010 26
2011 33
2012 28
2013 11
2014 8
2015 7
2016 11
2017 8
2018 4
2019 3
2020 4
2021 2
2022 1
2023 2
2024 0

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Similar articles for PMID: 20522430

178 results

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Page 1
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, McMahon JM, Iona X, Carpintero RS, Elia M, Cilio MR, Specchio N, Giordano L, Striano P, Gennaro E, Cross JH, Kivity S, Neufeld MY, Afawi Z, Andermann E, Keene D, Dulac O, Zara F, Berkovic SF, Guerrini R, Mulley JC. Marini C, et al. Epilepsia. 2009 Jul;50(7):1670-8. doi: 10.1111/j.1528-1167.2009.02013.x. Epub 2009 Mar 12. Epilepsia. 2009. PMID: 19400878 Free article.
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673951
Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Azmanov DN, Zhelyazkova S, Dimova PS, Radionova M, Bojinova V, Florez L, Smith SJ, Tournev I, Jablensky A, Mulley J, Scheffer I, Kalaydjieva L, Sander JW. Azmanov DN, et al. Epileptic Disord. 2010 Jun;12(2):117-24. doi: 10.1684/epd.2010.0311. Epileptic Disord. 2010. PMID: 20562086 Free article.
178 results