{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSCN1B encodes the β1 subunit of voltage‐gated sodium channels, which is essential for fine‐tuning the biophysical properties of the pore‐forming α subunits. In cardiac tissue, β1 modulates channel gating—with effects on voltage‐dependent activation, inactivation, and recovery kinetics—that are critical for maintaining normal conduction. Disruptions in β1 function (by loss‐of‐function mutations or impaired post‐translational processing) have been linked to arrhythmogenic disorders such as Brugada syndrome, atrial fibrillation, sudden infant death syndrome, and other conduction defects. These studies demonstrate that mutant β1 subunits detrimentally alter sodium current density and kinetics in the heart, thereby predisposing to lethal dysrhythmias."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "15"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the nervous system, β1 subunits similarly modulate the gating and kinetics of neuronal sodium channels—including NaV1.1, NaV1.2, NaV1.3 and others—in addition to contributing to cell adhesion and neurite outgrowth. Studies of patients with Dravet syndrome, GEFS+ and early infantile epileptic encephalopathy have shown that mutations in SCN1B compromise β1 surface expression or its modulatory capacity, leading to aberrant sodium channel availability and neuronal hyperexcitability. Experimental work using heterologous systems, animal models, and computational analyses has established that such deficits in β1‐mediated modulation disrupt normal neuronal firing patterns, thereby promoting epileptogenesis and network dysregulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "16", "end_ref": "34"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its canonical role in modulating sodium channel currents, SCN1B is subject to alternative splicing and post‐translational modifications that broaden its functional repertoire. Alternative isoforms such as β1B, which differ in their C‐terminal sequence and solubility, are expressed in a developmentally regulated and tissue‐specific fashion, influencing not only sodium channel kinetics but also cell–cell adhesion and intracellular signaling cascades (including regulated proteolysis, phosphorylation, and palmitoylation). Furthermore, expression of SCN1B in non‐excitable cells (for example, in astrocytes and colonic tissues) suggests ancillary roles in cell migration and in modulating invasive behaviors, as implicated by studies in cancer and glial pathology."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "35", "end_ref": "42"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "M Raudenská, A Bittnerová, T Novotný, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Physiol Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.33549/physiolres.931184"}], "href": "https://doi.org/10.33549/physiolres.931184"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18052691"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18052691"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Hiroshi Watanabe, Tamara T Koopmann, Solena Le Scouarnec, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI33891"}], "href": "https://doi.org/10.1172/JCI33891"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18464934"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18464934"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Hiroshi Watanabe, Dawood Darbar, Daniel W Kaiser, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Arrhythm Electrophysiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCEP.108.779181"}], "href": "https://doi.org/10.1161/CIRCEP.108.779181"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19808477"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19808477"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Simona Casini, Hanno L Tan, Ilker Demirayak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tubulin polymerization modifies cardiac sodium channel expression and gating."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cardiovasc Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/cvr/cvp352"}], "href": "https://doi.org/10.1093/cvr/cvp352"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19861310"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19861310"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Bi-Hua Tan, Kavitha N Pundi, David W Van Norstrand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sudden infant death syndrome-associated mutations in the sodium channel beta subunits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Heart Rhythm (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.hrthm.2010.01.032"}], "href": "https://doi.org/10.1016/j.hrthm.2010.01.032"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20226894"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20226894"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Dan Hu, Hector Barajas-Martínez, Argelia Medeiros-Domingo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Heart Rhythm (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.hrthm.2011.12.006"}], "href": "https://doi.org/10.1016/j.hrthm.2011.12.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22155597"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22155597"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Anders G Holst, Siamak Saber, Massoud Houshmand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sodium current and potassium transient outward current genes in Brugada syndrome: screening and bioinformatics."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Can J Cardiol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cjca.2011.11.011"}], "href": "https://doi.org/10.1016/j.cjca.2011.11.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22284586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22284586"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Lei Yuan, Jussi T Koivumäki, Bo Liang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Heart Circ Physiol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpheart.00405.2013"}], "href": "https://doi.org/10.1152/ajpheart.00405.2013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24561865"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24561865"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Bo Gregers Winkel, Lei Yuan, Morten S Olesen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Heart Rhythm (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.hrthm.2015.03.013"}], "href": "https://doi.org/10.1016/j.hrthm.2015.03.013"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25757662"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25757662"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Can Hasdemir, Serdar Payzin, Umut Kocabas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Heart Rhythm (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.hrthm.2015.03.015"}], "href": "https://doi.org/10.1016/j.hrthm.2015.03.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25998140"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25998140"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Kenshi Hayashi, Tetsuo Konno, Hayato Tada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Arrhythm Electrophysiol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCEP.114.002519"}], "href": "https://doi.org/10.1161/CIRCEP.114.002519"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26129877"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26129877"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Uschi Peeters, Fabiana Scornik, Helena Riuró, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ J (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1253/circj.CJ-15-0164"}], "href": "https://doi.org/10.1253/circj.CJ-15-0164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26179811"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26179811"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Belinda Gray, Can Hasdemir, Jodie Ingles, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Heart Rhythm (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.hrthm.2018.03.015"}], "href": "https://doi.org/10.1016/j.hrthm.2018.03.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29758173"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29758173"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Hao Yao, Jun Fan, Yun-Jiu Cheng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.13839"}], "href": "https://doi.org/10.1111/jcmm.13839"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30160358"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30160358"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Roberto Ramos-Mondragon, Nnamdi Edokobi, Samantha L Hodges, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neonatal Scn1b-null mice have sinoatrial node dysfunction, altered atrial structure, and atrial fibrillation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JCI Insight (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/jci.insight.152050"}], "href": "https://doi.org/10.1172/jci.insight.152050"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35603785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35603785"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "R H Wallace, I E Scheffer, G Parasivam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/wnl.58.9.1426"}], "href": "https://doi.org/10.1212/wnl.58.9.1426"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12011299"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12011299"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Laurence S Meadows, Jyoti Malhotra, Andrew Loukas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12486163"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12486163"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "D Audenaert, L Claes, B Ceulemans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/01.wnl.0000080362.55784.1c"}], "href": "https://doi.org/10.1212/01.wnl.0000080362.55784.1c"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14504340"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14504340"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "M Z Haider, Y Habeeb, E Al-Nakkas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biomed Sci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11373-005-9009-y"}], "href": "https://doi.org/10.1007/s11373-005-9009-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16205844"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16205844"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "E A Thomas, R Xu, S Petrou "}, {"type": "b", "children": [{"type": "t", "text": "Computational analysis of the R85C and R85H epilepsy mutations in Na+ channel beta1 subunits."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroscience (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroscience.2007.05.010"}], "href": "https://doi.org/10.1016/j.neuroscience.2007.05.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17604911"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17604911"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "R Xu, E A Thomas, E V Gazina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroscience (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neuroscience.2007.05.038"}], "href": "https://doi.org/10.1016/j.neuroscience.2007.05.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17629415"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17629415"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Iori Ohmori, Mamoru Ouchida, Takafumi Miki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurobiol Dis (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nbd.2008.07.017"}], "href": "https://doi.org/10.1016/j.nbd.2008.07.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18755274"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18755274"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Sin-Young Jang, Myeong-Kyu Kim, Kee-Ra Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Korean Med Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3346/jkms.2009.24.1.62"}], "href": "https://doi.org/10.3346/jkms.2009.24.1.62"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19270815"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19270815"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Gustavo A Patino, Lieve R F Claes, Luis F Lopez-Santiago, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A functional null mutation of SCN1B in a patient with Dravet syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.2475-09.2009"}], "href": "https://doi.org/10.1523/JNEUROSCI.2475-09.2009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19710327"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19710327"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Sandeep Grover, Mandaville Gourie-Devi, Ruchi Baghel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenomics (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2217/pgs.10.62"}], "href": "https://doi.org/10.2217/pgs.10.62"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20602612"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20602612"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "N Fendri-Kriaa, F Kammoun, I Hadj Salem, et al. "}, {"type": "b", "children": [{"type": "t", "text": "New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1468-1331.2010.03216.x"}], "href": "https://doi.org/10.1111/j.1468-1331.2010.03216.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21040232"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21040232"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "S Yamashita, A Okumura, T Yamamoto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuropediatrics (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1055/s-0031-1285837"}], "href": "https://doi.org/10.1055/s-0031-1285837"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21882141"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21882141"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Csilla Egri, Yuriy Y Vilin, Peter C Ruben "}, {"type": "b", "children": [{"type": "t", "text": "A thermoprotective role of the sodium channel β1 subunit is lost with the β1 (C121W) mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1528-1167.2011.03389.x"}], "href": "https://doi.org/10.1111/j.1528-1167.2011.03389.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22292491"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22292491"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Young Ok Kim, Leanne Dibbens, Carla Marini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Do mutations in SCN1B cause Dravet syndrome?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.eplepsyres.2012.10.009"}], "href": "https://doi.org/10.1016/j.eplepsyres.2012.10.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23182416"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23182416"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Larry Baum, Batoul Sadat Haerian, Ho-Keung Ng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-013-1405-1"}], "href": "https://doi.org/10.1007/s00439-013-1405-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24337656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24337656"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Robert J Hatch, Christopher A Reid, Steven Petrou "}, {"type": "b", "children": [{"type": "t", "text": "Enhanced in vitro CA1 network activity in a sodium channel β1(C121W) subunit model of genetic epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.12568"}], "href": "https://doi.org/10.1111/epi.12568"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24605816"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24605816"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "W Ramadan, N Patel, S Anazi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.12999"}], "href": "https://doi.org/10.1111/cge.12999"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28218389"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28218389"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Debora Baroni, Cristiana Picco, Oscar Moran "}, {"type": "b", "children": [{"type": "t", "text": "A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23589"}], "href": "https://doi.org/10.1002/humu.23589"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29992740"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29992740"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Marcello Scala, Stephanie Efthymiou, Tipu Sultan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.16913"}], "href": "https://doi.org/10.1111/epi.16913"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33901312"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33901312"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Eleonora Aronica, Dirk Troost, Annemieke J Rozemuller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression and regulation of voltage-gated sodium channel beta1 subunit protein in human gliosis-associated pathologies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Neuropathol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00401-003-0677-2"}], "href": "https://doi.org/10.1007/s00401-003-0677-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12677453"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12677453"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Ning Qin, Michael R D'Andrea, Mary-Lou Lubin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Biochem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.1432-1033.2003.03878.x"}], "href": "https://doi.org/10.1046/j.1432-1033.2003.03878.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14622265"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14622265"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Oleksandr Platoshyn, Carmelle V Remillard, Ivana Fantozzi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pflugers Arch (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00424-005-1478-3"}], "href": "https://doi.org/10.1007/s00424-005-1478-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16052353"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16052353"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Gustavo A Patino, William J Brackenbury, Yangyang Bao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurosci (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1523/JNEUROSCI.0361-11.2011"}], "href": "https://doi.org/10.1523/JNEUROSCI.0361-11.2011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21994374"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21994374"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Michaela Nelson, Rebecca Millican-Slater, Lorna C Forrest, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The sodium channel β1 subunit mediates outgrowth of neurite-like processes on breast cancer cells and promotes tumour growth and metastasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.28890"}], "href": "https://doi.org/10.1002/ijc.28890"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24729314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24729314"}]}, {"type": "r", "ref": 40, "children": [{"type": "t", "text": "Anne Marie O'Donnell, Hiroki Nakamura, Christian Tomuschat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal Scn1b and Fxyd1 gene expression in the pulled-through ganglionic colon may influence functional outcome in patients with Hirschsprung's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Surg Int (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00383-018-4370-x"}], "href": "https://doi.org/10.1007/s00383-018-4370-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30386899"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30386899"}]}, {"type": "r", "ref": 41, "children": [{"type": "t", "text": "Huaizong Shen, Dongliang Liu, Kun Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structures of human Na"}, {"type": "a", "children": [{"type": "t", "text": "sub"}], "href": "sub"}, {"type": "t", "text": "v"}, {"type": "a", "children": [{"type": "t", "text": "/sub"}], "href": "/sub"}, {"type": "t", "text": "1.7 channel in complex with auxiliary subunits and animal toxins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.aaw2493"}], "href": "https://doi.org/10.1126/science.aaw2493"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30765606"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30765606"}]}, {"type": "r", "ref": 42, "children": [{"type": "t", "text": "Alexandra A Bouza, Julie M Philippe, Nnamdi Edokobi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "S"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": "-palmitoylation, and regulated intramembrane proteolysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.RA120.013978"}], "href": "https://doi.org/10.1074/jbc.RA120.013978"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32503841"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32503841"}]}]}]}