Citations for
1EIEE62, SCN2A, SCN3A
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 60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13. 2018
2DEl2Q24, SCN1A, SCN2A, SCN3A
Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.
Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.
Epilepsia pilepsia. 2012 Sep 27. doi: 10.1111/j.1528-1167.2012.03676.x. [Epub ahead of print] 2012
3DEl2Q24, SCN1A, SCN2A, SCN3A
An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy.
Raymond G, Wohler E, Dinsmore C, Cox J, Johnston M, Batista D, Wang T.
Am J Med Genet A 155A(4):920-3. doi: 10.1002/ajmg.a.33929. Epub 2011 Mar 17. No abstract available. 2011
4SCN1A, SCN2A, SCN3A, SCN5A
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
Gazina EV, Richards KL, Mokhtar MB, Thomas EA, Reid CA, Petrou S.
Neuroscience 166(1):195-200. Epub 2009 Dec 17.PMID: 20006674 2010
5SCN2A, SCN3A, SCN9A, TRPM5
Voltage-gated sodium channels in taste bud cells.
Gao N, Lu M, Echeverri F, Laita B, Kalabat D, Williams ME, Hevezi P, Zlotnik A, Moyer BD.
BMC Neurosci 10:20.PMID: 19284629 2009
6DEl2Q24, GEFSP2, SCN1A, SCN2A, SCN3A, SMEI1, SMEI2
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.
Epilepsia 50(7):1670-8. Epub 2009 Mar 12. 2009
7EIEE11, SCN2A
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.
Neurology 73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc. 2009
8SCN2A
Sodium channel expression within chronic multiple sclerosis plaques.
Black JA, Newcombe J, Trapp BD, Waxman SG.
J Neuropathol Exp Neurol 66(9):828-37. 2007
9SCN1A, SCN2A, SCN3A
Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.
Martin MS, Tang B, Ta N, Escayg A.
Genomics 90(2):225-35. Epub 2007 Jun 4. 2007
10BFNIS, SCN2A
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF.
Epilepsia 48(6):1138-42. Epub 2007 Mar 26. 2007
11ENFL1, CHRNA4, BRD2, ME2, LGI1, EPT, EFHC1, EJM1, BFNIS, SCN2A
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA.
Hum Mol Genet 14(17):2491-500. Epub 2005 Jul 27. 2005
12BFNIS,SCN2A
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.
Bergren SK, Chen S, Galecki A, Kearney JA.
Mamm Genome 16(9):683-90. Epub 2005 Oct 19. 2005
13BFNIS, SCN2A
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE.
Ann Neurol 55(4):550-7. 2004
14EIEE11, SCN2A
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K.
J Neurosci 24(11):2690-8. 2004
15SCN1A, SCN2A, SCN3A
Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH.
Mol Psychiatry 8(2):186-94. 2003
16GEFSP2, SCN2A
A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.
Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, Mazaki-Miyazaki E, Nagafuji H, Noda M, Imoto K, Wada K, Mitsudome A, Kaneko S, Montal M, Nagata K, Hirose S, Yamakawa K.
Proc Natl Acad Sci U S A 98(11):6384-9. 2001
17SCN2A, SCN3A
Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.
Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ.
Gene 264(1):113-22. 2001
18SCN2A
Identifying the promoter region of the human brain sodium channel subtype II gene (SCN2A).
Schade SD, Brown GB.
Brain Res Mol Brain Res 81(1-2):187-90. 2000
19APLP2, CAMK2B, CPB1, ENO1, VWF, GLS, ITPKC, LONP1, MTFN, PDE2A, PPP2R2A, MAP2K1L, RAB5B, SCN2A, TST
Toward a cDNA map of the human genome.
Korenberg JR, et al.
Genomics 29 : 364-370. 1995
20SCN2A
Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.
Ahmed CMI, et al.
Proc Natl Acad Sci U S A 89 : 8220-8224. 1992
21SCN2A
Differential expression of two sodium channel subtypes in human brain.
Lu CM, et al.
FEBS Lett 303 : 53-58. 1992
22SCN2A
Direct amplification of a single dissected chromosomal segment by polymerase chain reaction : a human brain sodium channel gene is on chromosome 2q22-23.
Han J, et al.
Proc Natl Acad Sci U S A 88 : 335-339. 1991
23SCN2A
Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.
Litt M, Luty J, Kwak M, Allen L, Magenis RE, Mandel G
Genomics 5 : 204-208. 1989