| 1 | SCN1A, SCN1B, SCN2A, SCN2B
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| Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy
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| Baum L, Haerian BS, Ng HK, Wong VC, Ng PW, Lui CH, Sin NC, Zhang C, Tomlinson B, Wong GW, Tan HJ, Raymond AA, Mohamed Z, Kwan P.
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| Hum Genet. May;133(5):651-9. doi: 10.1007/s00439-013-1405-1. Epub 2013 Dec 13. 2014
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| 2 | EIEE52, SCN1B
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| Do mutations in SCN1B cause Dravet syndrome?
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| Kim YO, Dibbens L, Marini C, Suls A, Chemaly N, Mei D, McMahon JM, Iona X, Berkovic SF, De Jonghe P, Guerrini R, Nabbout R, Scheffer IE.
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| Epilepsy Res 103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20.
2013
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| 3 | EIEE52, SCN1B
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| A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
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| Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K.
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| Epilepsia 53(12):e200-3. doi: 10.1111/epi.12040. Epub 2012 Nov 13.
2012
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| 4 | EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
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| The genetics of Dravet syndrome.
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| Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
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| Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
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| 5 | SCN1B
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| Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
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| Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O'Malley HA, Chen C, Calhoun JD, Lafrenière RG, Cossette P, Rouleau GA, Isom LL.
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| J Neurosci 31(41):14577-91.
2011
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| 6 | BRGS5, SCN1B
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| A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese.
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| Ogawa R, Kishi R, Takagi A, Sakaue I, Takahashi H, Matsumoto N, Masuhara K, Nakazawa K, Kobayashi S, Miyake F, Echizen H.
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| Int J Clin Pharmacol Ther 48(2):109-19.PMID: 20137763 2010
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| 7 | GABRG2, GEFSP1, GEFSP2, SCB1A, SCN1B, SMEI2
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| Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
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| Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
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| Brain Dev 31(5):394-400. Epub 2009 Feb 8. 2009
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| 8 | BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
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| The genetic basis of Brugada syndrome: a mutation update.
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| Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
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| Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
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| 9 | SCN1B, SMEI3
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| A functional null mutation of SCN1B in a patient with Dravet syndrome.
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| Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL.
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| J Neurosci 29(34):10764-78.PMID: 19710327 2009
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| 10 | SCN1B
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| Sodium channel beta1 regulatory subunit deficiency reduces pancreatic islet glucose-stimulated insulin and glucagon secretion.
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| Ernst SJ, Aguilar-Bryan L, Noebels JL.
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| Endocrinology 150(3):1132-9. Epub 2008 Nov 6.PMID: 18988673 2009
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| 11 | BRGS5, SCN1B
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| Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
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| Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR.
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| J Clin Invest 118(6):2260-8.PMID: 18464934 2008
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| 12 | SCN1B
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| scn1bb, a zebrafish ortholog of SCN1B expressed in excitable and nonexcitable cells, affects motor neuron axon morphology and touch sensitivity.
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| Fein AJ, Wright MA, Slat EA, Ribera AB, Isom LL.
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| J Neurosci 28(47):12510-22.PMID: 19020043 2008
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| 13 | GEFSP1, SCN1B
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| Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
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| Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF.
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| Brain 130(Pt 1):100-9. Epub 2006 Oct 4.
2007
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| 14 | SCN1B, GEFSP1
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| Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability.
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| Kiernan MC, Krishnan AV, Lin CS, Burke D, Berkovic SF.
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| Brain 128(Pt 8):1841-6. Epub 2005 Apr 27. 2005
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| 15 | SCN1B, GEFSP1
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| A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
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| Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P.
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| Neurology 61(6):854-6. 2003
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| 16 | SCN1B
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| Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit.
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| Qin N, D'Andrea MR, Lubin ML, Shafaee N, Codd EE, Correa AM.
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| Eur J Biochem 270(23):4762-70. 2003
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| 17 | SCN1B, GEFSP1
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| Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
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| Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC.
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| Neurology 58(9):1426-9. 2002
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| 18 | SCN1A, SCN1B
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| Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
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| Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF.
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| Am J Hum Genet 68(4):859-65. 2001
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| 19 | SCN1B
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| Cloning, localization, and functional expression of sodium channel beta1A subunits.
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| Kazen-Gillespie KA, Ragsdale DS, D'Andrea MR, Mattei LN, Rogers KE, Isom LL.
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| J Biol Chem 275(2):1079-88. 2000
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| 20 | EBN3, SCN1B
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| Study of the voltage-gated sodium channel beta1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome.
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| Moulard B, Buresi C, Malafosse A.
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| Hum Mutat 16(2):139-42. 2000
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| 21 | GEFSP1, SCN1B
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| Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
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| Wallace RH, et al.
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| Nat Genet 19 : 366-370. 1998
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| 22 | GEFSP1, SCN1B
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| Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
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| Scheffer IE, Berkovic SF.
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| Brain 120 ( Pt 3):479-90. 1997
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| 23 | SCN1B
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| Voltage-gated Na+ channel beta1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
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| Makita N, et al.
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| J Biol Chem 269 : 7571-7578. 1994
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| 24 | SCN1B
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| Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta1 subunit gene (SCN1B).
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| Makita N, et al.
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| Genomics 23 : 628-634. 1994
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| 25 | SCN1B
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| The cloning and expression of a sodium channel beta1-subunit cDNA from human brain.
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| McClatchey AI, et al.
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| Hum Mol Genet 2 : 745-749. 1993
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