Citations for
1EIEE52, SCN1B
Do mutations in SCN1B cause Dravet syndrome?
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.
Epilepsy Res 103(1):97-100. doi: 10.1016/j.eplepsyres.2012.10.009. Epub 2012 Nov 20. 2013
2EIEE52, SCN1B
A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome.
Ogiwara I, Nakayama T, Yamagata T, Ohtani H, Mazaki E, Tsuchiya S, Inoue Y, Yamakawa K.
Epilepsia 53(12):e200-3. doi: 10.1111/epi.12040. Epub 2012 Nov 13. 2012
3EIEE74, GABRG2, PCDH19, SCN1A, SCN1B, SMEI2
The genetics of Dravet syndrome.
Marini C, Scheffer IE, Nabbout R, Suls A, De Jonghe P, Zara F, Guerrini R.
Epilepsia 52 Suppl 2:24-9. doi: 10.1111/j.1528-1167.2011.02997.x. Review. 2011
4SCN1B
Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O'Malley HA, Chen C, Calhoun JD, Lafrenière RG, Cossette P, Rouleau GA, Isom LL.
J Neurosci 31(41):14577-91. 2011
5BRGS5, SCN1B
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.
Ogawa R, Kishi R, Takagi A, Sakaue I, Takahashi H, Matsumoto N, Masuhara K, Nakazawa K, Kobayashi S, Miyake F, Echizen H.
Int J Clin Pharmacol Ther 48(2):109-19.PMID: 20137763 2010
6GABRG2, GEFSP1, GEFSP2, SCB1A, SCN1B, SMEI2
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
Scheffer IE, Zhang YH, Jansen FE, Dibbens L.
Brain Dev 31(5):394-400. Epub 2009 Feb 8. 2009
7BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
The genetic basis of Brugada syndrome: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
8SCN1B, SCN2B
Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM.
Circ Arrhythm Electrophysiol 2(3):268-75. Epub 2009 Mar 6.PMID: 19808477 2009
9SCN1B, SMEI3
A functional null mutation of SCN1B in a patient with Dravet syndrome.
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.
J Neurosci 29(34):10764-78.PMID: 19710327 2009
10SCN1B
Sodium channel beta1 regulatory subunit deficiency reduces pancreatic islet glucose-stimulated insulin and glucagon secretion.
Ernst SJ, Aguilar-Bryan L, Noebels JL.
Endocrinology 150(3):1132-9. Epub 2008 Nov 6.PMID: 18988673 2009
11BRGS5, SCN1B
Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.
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.
J Clin Invest 118(6):2260-8.PMID: 18464934 2008
12SCN1B
scn1bb, a zebrafish ortholog of SCN1B expressed in excitable and nonexcitable cells, affects motor neuron axon morphology and touch sensitivity.
Fein AJ, Wright MA, Slat EA, Ribera AB, Isom LL.
J Neurosci 28(47):12510-22.PMID: 19020043 2008
13GEFSP1, SCN1B
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
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.
Brain 130(Pt 1):100-9. Epub 2006 Oct 4. 2007
14SCN1B, GEFSP1
Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability.
Kiernan MC, Krishnan AV, Lin CS, Burke D, Berkovic SF.
Brain 128(Pt 8):1841-6. Epub 2005 Apr 27. 2005
15SCN1B, GEFSP1
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy.
Audenaert D, Claes L, Ceulemans B, Lofgren A, Van Broeckhoven C, De Jonghe P.
Neurology 61(6):854-6. 2003
16SCN1B
Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit.
Qin N, D'Andrea MR, Lubin ML, Shafaee N, Codd EE, Correa AM.
Eur J Biochem 270(23):4762-70. 2003
17SCN1B, GEFSP1
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.
Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC.
Neurology 58(9):1426-9. 2002
18SCN1A, SCN1B
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
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.
Am J Hum Genet 68(4):859-65. 2001
19SCN1B
Cloning, localization, and functional expression of sodium channel beta1A subunits.
Kazen-Gillespie KA, Ragsdale DS, D'Andrea MR, Mattei LN, Rogers KE, Isom LL.
J Biol Chem 275(2):1079-88. 2000
20EBN3, SCN1B
Study of the voltage-gated sodium channel beta1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome.
Moulard B, Buresi C, Malafosse A.
Hum Mutat 16(2):139-42. 2000
21GEFSP1, SCN1B
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
Wallace RH, et al.
Nat Genet 19 : 366-370. 1998
22GEFSP1, SCN1B
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
Scheffer IE, Berkovic SF.
Brain 120 ( Pt 3):479-90. 1997
23SCN1B
Voltage-gated Na+ channel beta1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
Makita N, et al.
J Biol Chem 269 : 7571-7578. 1994
24SCN1B
Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta1 subunit gene (SCN1B).
Makita N, et al.
Genomics 23 : 628-634. 1994
25SCN1B
The cloning and expression of a sodium channel beta1-subunit cDNA from human brain.
McClatchey AI, et al.
Hum Mol Genet 2 : 745-749. 1993