[1] |
Wang Y,Long S,Wei C,et al.Rare compound heterozygous missense mutation of the SCN5A gene with childhood-onset sick sinus syndrome in two Chinese sisters[J].Int Heart J,2023,64(2):299-305.DOI:10.1536/ihj.22-515.
|
[2] |
中华医学会心电生理和起搏分会与中国医师协会心律学专业委员会.心动过缓和传导异常患者的评估与管理中国专家共识2020[J].中华心律失常学杂志,2021,25(3):185-211.DOI:10.3760/cma.j.cn113859-20211101-00228.Chinese Society of Pacing and Electrophysiology,Chinese Society of Arrhythmias.Chinese expert consensus on the evaluation and management of patients with bradycardia and cardiac conduction delay (2020) [J].Chin J Arrhythmias,2021,25(3):185-211.DOI:10.3760/cma.j.cn113859-20211101-00228.
|
[3] |
Riggs ER,Andersen EF,Cherry AM,et al.Technical standards for the interpretation and reporting of constitutional copy-number variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG)and the Clinical Genome Resource(Clin Gen) [J].Genet Med,2020,22(2):245-257.DOI:10.1038/s41436-019-0686-8.
|
[4] |
刘威, 侯翠兰, 谢利剑, 等.病态窦房结综合征家系致病基因分析1例并文献复习[J].儿科药学杂志,2022,28(9):37-41.DOI:10.13407/j.cnki.jpp.1672-108X.2022.09.010.Liu W,Hou CL,Xie LJ,et al.Genetic analysis of sick sinus syndrome in a family and literature review[J].J Pediatr Pharm,2022,28(9):37-41.DOI:10.13407/j.cnki.jpp.1672-108X.2022.09.010.
|
[5] |
麦嘉卉,欧振恒,陈黎,等.GNB5 基因变异致智力发育障碍伴窦房结功能障碍一家系并文献复习[J].中华儿科杂志,2020,58(10):833-837.DOI:10.3760/cma.j.cn112140-20200421-00411.Mai JH,Ou ZH,Chen L,et al.Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review[J].Chin J Pediatr,2020,58(10):833-837.DOI:10.3760/cma.j.cn112140-20200421-00411.
|
[6] |
Sacilotto L,Epifanio HB,Darrieux FC,et al.Compound heterozygous SCN5A mutations in a toddler:are they associated with a more severe phenotype? [J].Arq Bras Cardiol,2017,108 (1):70-73.DOI:10.5935/abc.20170006.
|
[7] |
Alkorashy M,Al-Ghamdi B,Tulbah S,et al.A novel homozygous SCN5A variant detected in sick sinus syndrome[J].Pacing Clin Electrophysiol,2021,44(2):380-384.DOI:10.1111/pace.14077.
|
[8] |
Neu A,Eiselt M,Paul M,et al.A homozygous SCN5A mutation in a severe,recessive type of cardiac conduction disease[J].Hum Mutat,2010,31(8):E1609-E1621.DOI:10.1002/humu.21302.
|
[9] |
Tan BH,Iturralde-Torres P,Medeiros-Domingo A,et al.A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome,conduction disorder and ventricular tachycardia[J].Cardiovasc Res,2007,76(3):409-417.DOI:10.1016/j.cardiores.2007.08.006.
|
[10] |
Kodama T,Serio A,Disertori M,et al.Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A[J].Int J Cardiol,2013,167(6):3078-3080.DOI:10.1016/j.ijcard.2012.11.062.
|
[11] |
Benson DW,Wang DW,Dyment M,et al.Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene(SCN5A) [J].JClin Invest,2003,112(7):1019-1028.DOI:10.1172/JCI18062.
|
[12] |
De Filippo P,Ferrari P,Iascone M,et al.Cavotricuspid isthmus ablation and subcutaneous monitoring device implantation in a 2-year-old baby with 2 SCN5A mutations,sinus node dysfunction,atrial flutter recurrences,and drug induced long-QT syndrome:a tricky case of pediatric overlap syndrome? [J].J Cardiovasc Electrophysiol,2015,26(3):346-349.DOI:10.1111/jce.12570.
|
[13] |
Aoki H,Nakamura Y,Ohno S,et al.Cardiac conduction defects and Brugada syndrome:a family with overlap syndrome carrying a nonsense SCN5A mutation[J].J Arrhythm,2017,33(1):35-39.DOI:10.1016/j.joa.2016.05.007.
|
[14] |
Villarreal-Molina T,García-Ordóñez GP,Reyes-Quintero áE,et al.Clinical spectrum of SCN5A channelopathy in children with primary electrical disease and structurally normal hearts[J].Genes (Basel),2021,13(1):16.DOI:10.3390/genes13010016.
|
[15] |
Detta N,Frisso G,Limongelli G,et al.Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete[J].Int J Cardiol,2014,170(3):e63-65.DOI:10.1016/j.ijcard.2013.11.013.
|
[16] |
Abe K,Machida T,Sumitomo N,et al.Sodium channelopathy u nderlying familial sick sinus syndrome with early onset and predominantly male characteristics[J].Circ Arrhythm Electrophysiol,2014,7(3):511-517.DOI:10.1161/CIRCEP.113.001340.
|
[17] |
Baskar S,Ackerman MJ,Clements D,et al.Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease[J].J Pediatr,2014,165(5):1050-1052.DOI:10.1016/j.jpeds.2014.07.036.
|
[18] |
Chiang DY,Kim JJ,Valdes SO,et al.Loss-of-function SCN5A mutations associated with sinus node dysfunction,atrial arrhythmias,and poor pacemaker capture[J].Circ Arrhythm Electrophysiol,2015,8(5):1105-1112.DOI:10.1161/CIRCEP.115.003098.
|
[19] |
Tang M,Wang Y,Xu Y,et al.IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations[J].J Hum Genet,2020,65(7):627-631.DOI:10.1038/s10038-020-0742-x.
|
[20] |
Malerba N,Towner S,Keating K,et al.A NGS-targeted autism/ID panel reveals compound heterozygous GNB5 variants in a novel patient[J].Front Genet,2018,9:626.DOI:10.3389/fgene.2018.00626.
|
[21] |
Vernon H,Cohen J,De Nittis P,et al.Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants[J].Clin Genet,2018,93(6):1254-1256.DOI:10.1111/cge.13194.
|
[22] |
Lodder EM,De Nittis P,Koopman CD,et al.GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability[J].Am J Hum Genet,2016,99(3):704-710.DOI:10.1016/j.ajhg.2016.06.025.
|
[23] |
Turkdogan D,Usluer S,Akalin F,et al.Familial early infantile epileptic encephalopathy and cardiac conduction disorder:a rare cause of SUDEP in infancy[J].Seizure,2017,50:171-172.DOI:10.1016/j.seizure.2017.06.019.
|
[24] |
De Nittis P,Efthymiou S,Sarre A,et al.Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia(IDDCA)syndrome[J].J Med Genet,2021,58(12):815-831.DOI:10.1136/jmedgenet-2020-107015.
|
[25] |
Shioda T,Takahashi S,Kaname T,et al.MECP2 mutation in a boy with severe apnea and sick sinus syndrome[J].Brain Dev,2018,40(8):714-718.DOI:10.1016/j.braindev.2018.03.008.
|
[26] |
Inui T,Iwama K,Miyabayashi T,et al.Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2[J].Eur J Med Genet,2020,63(3):103769.DOI:10.1016/j.ejmg.2019.103769.
|
[27] |
Hategan L,Csányi B,Ördög B,et al.A novel'splice site'HCN4 gene mutation,c.1737+1 G>T,causes familial bradycardia,reduced heart rate response,impaired chronotropic competence and increased short-term heart rate variability[J].Int J Cardiol,2017,241:364-372.DOI:10.1016/j.ijcard.2017.04.058.
|
[28] |
Ishikawa T,Ohno S, Murakami T,et al.Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction[J].Heart Rhythm,2017,14(5):717-724.DOI:10.1016/j.hrthm.2017.01.020.
|
[29] |
Yamada N,Asano Y,Fujita M,et al.Mutant KCNJ3 and KCNJ5 potassium channels as novel molecular targets in bradyarrhythmias and atrial fibrillation[J].Circulation,2019,139(18):2157-2169.DOI:10.1161/CIRCULATIONAHA.118.036761.
|
[30] |
KuβJ,Stallmeyer B,Goldstein M,et al.Familial sinus node disease caused by a gain of GIRK (G-protein activated inwardly rectifying K+channel)channel function[J].Circ Genom Precis Med,2019,12(1):e002238.DOI:10.1161/CIRCGEN.118.002238.
|
[31] |
张海燕, 姚如恩, 许静.SCN5A 基因突变相关儿童心律失常临床分析 [J].儿科药学杂志,2023,29(7):48-51.DOI:10.13407/j.cnki.jpp.1672-108X.2023.07.013.Zhang HY,Yao RE,Xu J.Clinical analysis of SCN5A gene mutation related arrhythmia in children [J].J Pediatr Pharma,2023,29(7):48-51.DOI:10.13407/j.cnki.jpp.1672-108X.2023.07.013.
|
[32] |
BOS JM,Wiu ML,Gersh BJ,et al.Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy[J].Mayo Clin Proc,2014,89(6) :727-737.
|
[33] |
Ziyadeh-Isleem A,Clatot J,Duchatelet S,et al.A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation[J].Heart Rhythm,2014,11(6):1015-1023.DOI:10.1016/j.hrthm.2014.02.021.
|
[34] |
Verkerk AO,Amin AS,Remme CA.Disease modifiers of inherited SCN5A channelopathy[J].Front Cardiovasc Med,2018,5:137.DOI:10.3389/fcvm.2018.00137.
|
[35] |
Neul JL,Benke TA,Marsh ED,et al.The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2[J].Am J Med Genet B Neuropsychiatr Genet,2019,180(1):55-67.DOI:10.1002/ajmg.b.32707.
|
[36] |
Herrera JA,Ward CS,Wehrens XH,et al.Methyl-Cp G binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis[J].Hum Mol Genet,2016,25(22):4983-4995.DOI:10.1093/hmg/ddw326.
|
[37] |
Chandler NJ,Greener ID,Tellez JO,et al.Molecular architecture of the human sinus node:insights into the function of the cardiac pacemaker[J].Circulation,2009,119(12):1562-1575.DOI:10.1161/CIRCULATIONAHA.108.804369.
|
[38] |
Krapivinsky G,Gordon EA,Wickman K,et al.The G-protein-gated atrial K+channel IKACh is a heteromultimer of two inwardly rectifying K+channel proteins[J].Nature,1995,374(6518):135-141.DOI:10.1038/374135a0.
|
[39] |
Meregalli PG,Tan HL,Probst V,et al.Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies[J].Heart Rhythm,2009,6(3):341-348.DOI:10.1016/j.hrthm.2008.11.009.
|
[40] |
Lei M,Goddard C,Liu J,et al.Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene SCN5A[J].J Physiol,2005,567(Pt 2):387-400.DOI:10.1113/jphysiol.2005.083188.
|
[41] |
田荣成, 张泽生, 刘抗, 等.病态窦房结综合征的研究进展[J].赣南医学院学报,2019,39(7):662-667.DOI:10.3969/j.issn.1001-5779.2019.07.004.Tian RC,Zhang ZS,Liu K,et al.Progress in the study of sick sinus syndrome[J].J Gannan Med Univ,2019,39(7):662-667.DOI:10.3969/j.issn.1001-5779.2019.07.004.
|