PubMed (OMIM) for id: 6323

Year	Number of Results
1986	1
1989	1
1990	3
1991	1
1994	2
1997	1
1998	1
1999	3
2000	2
2001	9
2002	5
2003	3
2004	2
2005	5
2006	5
2007	4
2008	3
2009	11
2010	6
2011	3
2012	2
2014	2
2016	2
2017	2
2019	1
2024	0

1

Hippocampal deletion of Na_V1.1 channels in mice causes thermal seizures and cognitive deficit characteristic of Dravet Syndrome.

Stein RE, Kaplan JS, Li J, Catterall WA. Stein RE, et al. Proc Natl Acad Sci U S A. 2019 Aug 13;116(33):16571-16576. doi: 10.1073/pnas.1906833116. Epub 2019 Jul 25. Proc Natl Acad Sci U S A. 2019. PMID: 31346088 Free PMC article.

2

Dravet syndrome and its mimics: Beyond SCN1A.

Steel D, Symonds JD, Zuberi SM, Brunklaus A. Steel D, et al. Epilepsia. 2017 Nov;58(11):1807-1816. doi: 10.1111/epi.13889. Epub 2017 Sep 7. Epilepsia. 2017. PMID: 28880996 Review.

3

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. Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794249 Free PMC article.

4

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

Shbarou R, Mikati MA. Shbarou R, et al. Semin Pediatr Neurol. 2016 May;23(2):134-42. doi: 10.1016/j.spen.2016.06.002. Epub 2016 Jun 2. Semin Pediatr Neurol. 2016. PMID: 27544470 Review.

5

Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain.

Osteen JD, Herzig V, Gilchrist J, Emrick JJ, Zhang C, Wang X, Castro J, Garcia-Caraballo S, Grundy L, Rychkov GY, Weyer AD, Dekan Z, Undheim EA, Alewood P, Stucky CL, Brierley SM, Basbaum AI, Bosmans F, King GF, Julius D. Osteen JD, et al. Nature. 2016 Jun 23;534(7608):494-9. doi: 10.1038/nature17976. Epub 2016 Jun 6. Nature. 2016. PMID: 27281198 Free PMC article.

6

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

Ohashi T, Akasaka N, Kobayashi Y, Magara S, Kawashima H, Matsumoto N, Saitsu H, Tohyama J. Ohashi T, et al. Epileptic Disord. 2014 Jun;16(2):208-12. doi: 10.1684/epd.2014.0649. Epileptic Disord. 2014. PMID: 24776920 Free article.

7

Sleep abnormalities in children with Dravet syndrome.

Dhamija R, Erickson MK, St Louis EK, Wirrell E, Kotagal S. Dhamija R, et al. Pediatr Neurol. 2014 May;50(5):474-8. doi: 10.1016/j.pediatrneurol.2014.01.017. Epub 2014 Jan 7. Pediatr Neurol. 2014. PMID: 24656210

8

Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

Thompson CH, Porter JC, Kahlig KM, Daniels MA, George AL Jr. Thompson CH, et al. J Biol Chem. 2012 Dec 7;287(50):42001-8. doi: 10.1074/jbc.M112.421883. Epub 2012 Oct 19. J Biol Chem. 2012. PMID: 23086956 Free PMC article.

9

Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.

Han S, Tai C, Westenbroek RE, Yu FH, Cheah CS, Potter GB, Rubenstein JL, Scheuer T, de la Iglesia HO, Catterall WA. Han S, et al. Nature. 2012 Sep 20;489(7416):385-90. doi: 10.1038/nature11356. Epub 2012 Aug 22. Nature. 2012. PMID: 22914087 Free PMC article.

10

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. Neurology. 2011 Jul 26;77(4):380-3. doi: 10.1212/WNL.0b013e318227046d. Epub 2011 Jul 13. Neurology. 2011. PMID: 21753172 Free PMC article.

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