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See also: SCN2A sodium voltage-gated channel alpha subunit 2 in the Gene database
scn2a in Homo sapiensMus musculusRattus norvegicusAll 147 Gene records
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity.
Maksemous N, Smith RA, Sutherland HG, Sampaio H, Griffiths LR.
Int J Mol Sci. 2018 Oct 11;19(10). pii: E3113. doi: 10.3390/ijms19103113.
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A Bioluminescent Cell Assay to Quantify Prion Protein Dimerization.
Wüsten KA, Reddy PP, Smiyakin A, Bernis ME, Tamgüney G.
Sci Rep. 2018 Sep 21;8(1):14178. doi: 10.1038/s41598-018-32581-1.
A simple in vitro assay for assessing the efficacy, mechanisms and kinetics of anti-prion fibril compounds.
Ladner-Keay CL, Ross L, Perez-Pineiro R, Zhang L, Bjorndahl TC, Cashman N, Wishart DS.
Prion. 2018 Sep 18:1-21. doi: 10.1080/19336896.2018.1525254. [Epub ahead of print]
Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder.
Lee HH, Lau NK, Yeung CW, Ng SG, Yau KE, Mak CM.
Chin Med J (Engl). 2018 Sep 20;131(18):2262-2264. doi: 10.4103/0366-6999.240812. No abstract available.
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J, Tong L, Song S, Niu Y, Li J, Wu X, Zhang J, Zai CC, Luo F, Wu J, Li H, Wong AHC, Sun R, Liu F, Li B.
Mol Brain. 2018 Sep 5;11(1):48. doi: 10.1186/s13041-018-0392-5.
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients.
Miao P, Feng J, Guo Y, Wang J, Xu X, Wang Y, Li Y, Gao L, Zheng C, Cheng H.
Clin Genet. 2018 Sep 5. doi: 10.1111/cge.13441. [Epub ahead of print]
Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.
Ogiwara I, Miyamoto H, Tatsukawa T, Yamagata T, Nakayama T, Atapour N, Miura E, Mazaki E, Ernst SJ, Cao D, Ohtani H, Itohara S, Yanagawa Y, Montal M, Yuzaki M, Inoue Y, Hensch TK, Noebels JL, Yamakawa K.
Commun Biol. 2018;1. pii: 96. doi: 10.1038/s42003-018-0099-2. Epub 2018 Jul 19.
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.
Fazeli W, Becker K, Herkenrath P, Düchting C, Körber F, Landgraf P, Nürnberg P, Altmüller J, Thiele H, Koy A, Liebau MC, Simon T, Dötsch J, Cirak S.
Neuropediatrics. 2018 Aug 30. doi: 10.1055/s-0038-1668141. [Epub ahead of print]
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.
Lauxmann S, Verbeek NE, Liu Y, Zaichuk M, Müller S, Lemke JR, van Kempen MJA, Lerche H, Hedrich UBS.
Hum Mutat. 2018 Aug 24. doi: 10.1002/humu.23619. [Epub ahead of print]
Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.
Nickel K, Tebartz van Elst L, Domschke K, Gläser B, Stock F, Endres D, Maier S, Riedel A.
BMC Psychiatry. 2018 Aug 2;18(1):248. doi: 10.1186/s12888-018-1822-8.
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy.
Yokoi T, Enomoto Y, Tsurusaki Y, Naruto T, Kurosawa K.
Hum Genome Var. 2018 Jul 20;5:20. doi: 10.1038/s41439-018-0019-5. eCollection 2018.
The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy.
Ko A, Jung DE, Kim SH, Kang HC, Lee JS, Lee ST, Choi JR, Kim HD.
Front Neurol. 2018 Jul 16;9:530. doi: 10.3389/fneur.2018.00530. eCollection 2018.
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K.
Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun.
[Phenotype study of SCN2A gene related epilepsy].
Zeng Q, Zhang YH, Yang XL, Zhang J, Liu AJ, Liu XY, Jiang YW, Wu XR.
Zhonghua Er Ke Za Zhi. 2018 Jul 2;56(7):518-523. doi: 10.3760/cma.j.issn.0578-1310.2018.07.009. Chinese.
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M, Peng J, Yang L, Xiong J, Duan H, Pang N, Yin F.
BMC Genet. 2018 Jul 6;19(1):40. doi: 10.1186/s12863-018-0628-5.
Disulfide-crosslink scanning reveals prion-induced conformational changes and prion strain-specific structures of the pathological prion protein PrPSc.
Taguchi Y, Lu L, Marrero-Winkens C, Otaki H, Nishida N, Schatzl HM.
J Biol Chem. 2018 Aug 17;293(33):12730-12740. doi: 10.1074/jbc.RA117.001633. Epub 2018 Jun 22. Erratum in: J Biol Chem. 2018 Sep 21;293(38):14925.
Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.
Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene.
Middleton SJ, Kneller EM, Chen S, Ogiwara I, Montal M, Yamakawa K, McHugh TJ.
Nat Neurosci. 2018 Jul;21(7):996-1003. doi: 10.1038/s41593-018-0163-8. Epub 2018 Jun 4.
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B.
Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28.
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.
Berecki G, Howell KB, Deerasooriya YH, Cilio MR, Oliva MK, Kaplan D, Scheffer IE, Berkovic SF, Petrou S.
Proc Natl Acad Sci U S A. 2018 Jun 12;115(24):E5516-E5525. doi: 10.1073/pnas.1800077115. Epub 2018 May 29.
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