SCN1B

Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS.

• Sodium channel

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• {{cite journal | vauthors=Hartshorne RP, Catterall WA |title=The sodium channel from rat brain. Purification and subunit composition. |journal=J. Biol. Chem. |volume=259 |issue= 3 |pages= 1667–75 |year= 1984 |doi=10.1016/S0021-9258(17)43460-0 |pmid= 6319405 |doi-access=free }}
• {{cite journal |vauthors=Makita N, Sloan-Brown K, Weghuis DO, etal |title=Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). |journal=Genomics |volume=23 |issue= 3 |pages= 628–34 |year= 1995 |pmid= 7851891 |doi= 10.1006/geno.1994.1551 }}
• {{cite journal | vauthors=Makita N, Bennett PB, George AL |title=Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene. |journal=J. Biol. Chem. |volume=269 |issue= 10 |pages= 7571–8 |year= 1994 |doi=10.1016/S0021-9258(17)37325-8 |pmid= 8125980 |doi-access=free }}
• {{cite journal |vauthors=Wallace RH, Wang DW, Singh R, etal |title=Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. |journal=Nat. Genet. |volume=19 |issue= 4 |pages= 366–70 |year= 1998 |pmid= 9697698 |doi= 10.1038/1252 |s2cid=20962841 }}
• {{cite journal | vauthors=Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA |title=Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain. |journal=J. Cell Biol. |volume=154 |issue= 2 |pages= 427–34 |year= 2001 |pmid= 11470829 |doi=10.1083/jcb.200102086 | pmc=2150779 }}
• {{cite journal |vauthors=Fahmi AI, Patel M, Stevens EB, etal |title=The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. |journal=J. Physiol. |volume=537 |issue= Pt 3 |pages= 693–700 |year= 2002 |pmid= 11744748 |doi=10.1113/jphysiol.2001.012691 | pmc=2278985 }}
• {{cite journal |vauthors=Malhotra JD, Koopmann MC, Kazen-Gillespie KA, etal |title=Structural requirements for interaction of sodium channel beta 1 subunits with ankyrin. |journal=J. Biol. Chem. |volume=277 |issue= 29 |pages= 26681–8 |year= 2002 |pmid= 11997395 |doi= 10.1074/jbc.M202354200 |doi-access= free }}
• {{cite journal |vauthors=Wallace RH, Scheffer IE, Parasivam G, etal |title=Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. |journal=Neurology |volume=58 |issue= 9 |pages= 1426–9 |year= 2002 |pmid= 12011299 |doi= 10.1212/wnl.58.9.1426|s2cid=9403148 }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal |vauthors=Meadows LS, Malhotra J, Loukas A, etal |title=Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. |journal=J. Neurosci. |volume=22 |issue= 24 |pages= 10699–709 |year= 2003 |pmid= 12486163 |doi= 10.1523/JNEUROSCI.22-24-10699.2002 |pmc=6758463}}
• {{cite journal |vauthors=Aronica E, Troost D, Rozemuller AJ, etal |title=Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies. |journal=Acta Neuropathol. |volume=105 |issue= 5 |pages= 515–23 |year= 2003 |pmid= 12677453 |doi= 10.1007/s00401-003-0677-2 |hdl= 2027.42/42208 |s2cid=30847819 |hdl-access= free }}
• {{cite journal |vauthors=Audenaert D, Claes L, Ceulemans B, etal |title=A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. |journal=Neurology |volume=61 |issue= 6 |pages= 854–6 |year= 2004 |pmid= 14504340 |doi= 10.1212/01.wnl.0000080362.55784.1c|s2cid=20308172 }}
• {{cite journal |vauthors=Qin N, D'Andrea MR, Lubin ML, etal |title=Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. |journal=Eur. J. Biochem. |volume=270 |issue= 23 |pages= 4762–70 |year= 2004 |pmid= 14622265 |doi=10.1046/j.1432-1033.2003.03878.x }}
• {{cite journal |vauthors=McEwen DP, Meadows LS, Chen C, etal |title=Sodium channel beta1 subunit-mediated modulation of Nav1.2 currents and cell surface density is dependent on interactions with contactin and ankyrin. |journal=J. Biol. Chem. |volume=279 |issue= 16 |pages= 16044–9 |year= 2004 |pmid= 14761957 |doi= 10.1074/jbc.M400856200 |doi-access= free }}
• {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
• {{cite journal |vauthors=Platoshyn O, Remillard CV, Fantozzi I, etal |title=Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. |journal=Pflügers Arch. |volume=451 |issue= 2 |pages= 380–7 |year= 2006 |pmid= 16052353 |doi= 10.1007/s00424-005-1478-3 | pmc=1351366 }}
• {{cite journal | vauthors=Thomas EA, Xu R, Petrou S |title=Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits. |journal=Neuroscience |volume=147 |issue= 4 |pages= 1034–46 |year= 2007 |pmid= 17604911 |doi= 10.1016/j.neuroscience.2007.05.010 |s2cid=24583074 }}
• {{cite journal |vauthors=Xu R, Thomas EA, Gazina EV, etal |title=Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. |journal=Neuroscience |volume=148 |issue= 1 |pages= 164–74 |year= 2007 |pmid= 17629415 |doi= 10.1016/j.neuroscience.2007.05.038 |s2cid=36136731 }}

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• [https://www.ncbi.nlm.nih.gov/books/NBK1517/ GeneReviews/NIH/NCBI/UW entry on Brugada syndrome]
• {{MeshName|SCN1B+protein,+human}}

{{NLM content}}

{{Ion channels|g2}}

Category:Sodium channels

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