PubMed for id: 6323

Year	Number of Results
1986	1
1992	1
1993	2
1994	1
1998	1
1999	1
2000	1
2001	8
2002	5
2003	12
2004	8
2005	7
2006	10
2007	16
2008	24
2009	29
2010	23
2011	35
2012	32
2013	24
2014	25
2015	23
2016	23
2017	25
2018	24
2019	16
2020	17
2021	20
2022	14
2023	15
2024	6

1

[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].

Peng B, Zhu H, Tian Y, Li X, Wang X, Gao Y, Zhang Y, Shen H, Chen W. Peng B, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10;41(4):426-431. doi: 10.3760/cma.j.cn511374-20230421-00227. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38565507 Chinese.

2

[Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene].

Yang Z, Wang Y, Chen G, Song L, Ma Y, Zhang W. Yang Z, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):284-288. doi: 10.3760/cma.j.cn511374-20221102-00752. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448015 Chinese.

3

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936

4

Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.

Sierra-Marcos A, Ribosa-Nogué R, Vidal-Robau N, Aldecoa I, Turón E, Rodríguez-Santiago B, Turón M, Boronat S, Molina-Porcel L. Sierra-Marcos A, et al. Epilepsy Res. 2024 Jan;199:107266. doi: 10.1016/j.eplepsyres.2023.107266. Epub 2023 Dec 2. Epilepsy Res. 2024. PMID: 38061235

5

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

Sparber P, Sharova M, Davydenko K, Pyankov D, Filatova A, Skoblov M. Sparber P, et al. Brain. 2024 Apr 4;147(4):1278-1293. doi: 10.1093/brain/awad383. Brain. 2024. PMID: 37956038

6

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

Teralı K, Türkyılmaz A, Sağer SG, Çebi AH. Teralı K, et al. Clin Transl Sci. 2024 Jan;17(1):e13679. doi: 10.1111/cts.13679. Epub 2023 Dec 6. Clin Transl Sci. 2024. PMID: 37955180 Free PMC article.

7

Association between SCN1A polymorphism and risk of epilepsy in children: A systematic review and meta-analysis.

Zhou Z, Wu S, Zou X, Gu S. Zhou Z, et al. Seizure. 2023 Nov;112:40-47. doi: 10.1016/j.seizure.2023.09.012. Epub 2023 Sep 17. Seizure. 2023. PMID: 37741152

8

Gastrointestinal and eating problems in SCN1A-related seizure disorders.

Minderhoud CA, Postma A, Jansen FE, Verhoeven JS, Schrijver JJ, Goudswaard J, Andreae G, Otte WM, Braun KPJ, Brilstra EH. Minderhoud CA, et al. Epilepsy Behav. 2023 Sep;146:109361. doi: 10.1016/j.yebeh.2023.109361. Epub 2023 Jul 29. Epilepsy Behav. 2023. PMID: 37523795 Free article.

9

Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

Azzarà A, Cassano I, Lintas C, Pilato F, Capone F, Di Lazzaro V, Gurrieri F. Azzarà A, et al. Genes (Basel). 2023 Jul 20;14(7):1482. doi: 10.3390/genes14071482. Genes (Basel). 2023. PMID: 37510386 Free PMC article.

10

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.

van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N. van Hugte EJH, et al. Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. Brain. 2023. PMID: 37467479 Free PMC article.

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