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Section 7 - Pathophysiology

Published online by Cambridge University Press:  04 June 2019

Edited by
Marta C. Cohen ,
Irene B. Scheimberg ,
J. Bruce Beckwith  and
Fern R. Hauck
Marta C. Cohen
Affiliation:
Sheffield Children’s Hospital
Irene B. Scheimberg
Affiliation:
Royal London Hospital
J. Bruce Beckwith
Affiliation:
Loma Linda University School of Medicine
Fern R. Hauck
Affiliation:
University of Virginia
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Investigation of Sudden Infant Death Syndrome , pp. 159 - 218
Publisher: Cambridge University Press
Print publication year: 2019

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References

Primary Sources

Willinger, M, James, LS, Catz, C. Defining the Sudden Infant Death Syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development. Pediatr Pathol, 1991; 11(5):677–84.Google Scholar
Krous, HF, Beckwith, JB, Byard, RW, Rognum, TO, Bajanowski, T, Corey, T, et al. Sudden Infant Death Syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics, 2004; 114(1):234–8.CrossRefGoogle ScholarPubMed
Beal, SM, Baghurst, P, Antoniou, G. Sudden Infant Death Syndrome (SIDS) in South Australia 1968–97. Part 2: the epidemiology of non-prone and non-covered SIDS infants, J Paediatr Child Health, 2000; 36(6):548–51.Google Scholar
Moon, RY, Horne, R S, Hauck, FR. ‘Sudden Infant Death Syndrome’, Lancet, 2007; 370(9598):1578–87.Google Scholar
Lullaby Trust website: https://www.lullabytrust.org.uk/safer-sleep-advice/what-is-sids/ (accessed 13 October 2018).Google Scholar
Mathews, TJ, MacDorman, MF. Infant mortality statistics from the 2004 period linked birth/infant death data set, Natl Vital Stat Rep, 2007; 55(14):1–32.Google Scholar
Van Norstrand, DW, Ackerman, MJ. Genomic risk factors in Sudden Infant Death Syndrome, Genome Med, 2010; 2(11):86.CrossRefGoogle ScholarPubMed
Paterson, DS. Serotonin gene variants are unlikely to play a significant role in the pathogenesis of the Sudden Infant Death Syndrome. Respir Physiol Neurobiol, 2013; 189(2):301–14.CrossRefGoogle ScholarPubMed
Hunt, CE, Hauck, FR. Sudden Infant Death Syndrome, CMAJ, 2006; 174(13):1861–9.Google Scholar
Moon, RY, Fu, LY. Sudden Infant Death Syndrome. Pediatr Rev, 2007; 28(6):209–14.CrossRefGoogle ScholarPubMed
Guntheroth, WG, Spiers, PS The triple-risk hypotheses in Sudden Infant Death Syndrome, Pediatrics, 2002; 110(5):e64.CrossRefGoogle ScholarPubMed
Hauck, FR, Herman, SM, Donovan, M, Iyasu, S, Merrick Moore, C, et al. Sleep environment and the risk of Sudden Infant Death Syndrome in an urban population: the Chicago Infant Mortality Study, Pediatrics, 2003; 111(5 Pt 2):1207–14.Google Scholar
Tappin, D, Brooke, H, Ecob, R. Bedsharing and Sudden Infant Death Syndrome (SIDS) in Scotland, UK, Lancet, 2004; 363(9413):994.CrossRefGoogle ScholarPubMed
Tappin, D., Ecob, R. and Brooke, H. Bedsharing, roomsharing, and Sudden Infant Death Syndrome in Scotland: a case-control study, J Pediatr, 2005; 147(1):32–7.Google Scholar
Mitchell, EA, Milerad, J. Smoking and the Sudden Infant Death Syndrome, Rev Environ Health, 2006; 21(2):81–103.Google Scholar
Vennemann, MM, Bajanowski, T, Brinkmann, B, Jorch, G, Sauerland, C, et al. Sleep environment risk factors for Sudden Infant Death Syndrome: the German Sudden Infant Death Syndrome Study, Pediatrics, 2009; 123(4):1162–70.Google Scholar
Trachtenberg, FL, Haas, EA, Kinney, HC, Stanley, C, Krous, HF. Risk factor changes for Sudden Infant Death Syndrome after initiation of Back-to-Sleep campaign, Pediatrics, 2012; 129(4):630–8.Google Scholar
Salomonis, N. Systems-level perspective of Sudden Infant Death Syndrome. Pediatr Res, 2014; 76(3):220–9.CrossRefGoogle ScholarPubMed
Broadbelt, KG, Paterson, DS, Belliveau, RA, Trachtenberg, FL, Haas, EA, et al. Decreased GABAA receptor binding in the medullary serotonergic system in the Sudden Infant Death Syndrome, J Neuropathol Exp Neurol, 2011; 70(9):799–810.CrossRefGoogle ScholarPubMed
Kinney, HC, Broadbelt, KG, Haynes, RL, Rognum, IJ, Paterson, DS. The serotonergic anatomy of the developing human medulla oblongata: implications for pediatric disorders of homeostasis. J Chem Neuroanat, 2011; 41(4):182–99.Google Scholar
Wong, LC, Behr, ER. Sudden unexplained death in infants and children: the role of undiagnosed inherited cardiac conditions. Europace, 2014; 16(12):1706–13.Google Scholar
Weese-Mayer, DE, Ackerman, MJ, Marazita, ML and Berry-Kravis, EM Sudden Infant Death Syndrome: review of implicated genetic factors, Am J Med Genet A, 2007; 143A(8):771–88.Google Scholar
Neubauer, J, Lecca, MR, Russo, G, Bartsch, C, Medeiros-Domingo, A, Berger, W, Haas, C. Post-mortem whole-exome analysis in a large Sudden Infant Death Syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet, 2017; 25(4):404–9.Google Scholar
Carlin, RF, Moon, RY. Risk factors, protective factors, and current recommendations to reduce Sudden Infant Death Syndrome: a review. JAMA Pediatr, 2017; 171(2):175–180.Google Scholar

Secondary Sources

Tester, DJ, Ackerman, MJ. Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Ann Rev Med, 2009; 60:69–84.Google Scholar
Hertz, CL, Christiansen, SL, Larsen, MK, Dahl, M, Ferrero-Miliani, L, Weeke, PE, et al. Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. Eur J Hum Genet, 2016; 24(6):817–22.Google Scholar
Campuzano, O, Beltrán-Alvarez, P, Iglesias, A, Scornik, F, Pérez, G, Brugada, R. Genetics and cardiac channelopathies. Genet Med, 2010; 12(5):260–7.Google Scholar
Grant, AO, Carboni, MP, Neplioueva, V, Starmer, CF, Memmi, M, Napolitano, C, Priori, S. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest, 2002; 110(8):1201–9.Google Scholar
Cerrone, M, Napolitano, C, Priori, SG. Genetics of ion-channel disorders. Curr Opin Cardiol, 2012; 27(3):242–52.Google Scholar
Chugh, SS, Senashova, O, Watts, A, Tran, PT, Zhou, Z, Gong, Q, et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol, 2004; 43(9):1625–9.CrossRefGoogle ScholarPubMed
Skinner, JR, Crawford, J, Smith, W, Aitken, A, Heaven, D, Evans, CA, et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm, 2011; 8(3):412–19.CrossRefGoogle Scholar
Tester, DJ, Ackerman, MJ. The molecular autopsy: should the evaluation continue after the funeral? Pediatr Cardiol, 2012; 33(3):461–70.Google Scholar
Tester, DJ, Dura, M, Carturan, E, Reiken, S, Wronska, A, Marks, AR, Ackerman, MJ. A mechanism for Sudden Infant Death Syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm, 2007; 4(6):733–9.Google Scholar
Winkel, BG, Larsen, MK, Berge, KE, Leren, TP, Nissen, PH, Olesen, MS, et al. The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases. J Cardiovasc Electrophysiol, 2012; 23(10):1092–8.Google Scholar
Wang, D, Shah, KR, Um, SY, Eng, LS, Zhou, B, Lin, Y, et al. Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int, 2014; 237:90–9.Google Scholar
Cronk, LB, Ye, B, Kaku, T, Tester, DJ, Vatta, M, Makielski, JC, Ackerman, MJ. Novel mechanism for Sudden Infant Death Syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm, 2007; 4(2):161–6.Google Scholar
Van Norstrand, DW, Valdivia, CR, Tester, DJ, Ueda, K, London, B, Makielski, JC, Ackerman, MJ. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in Sudden Infant Death Syndrome. Circulation, 2007; 116(20):2253–9.CrossRefGoogle ScholarPubMed
Cheng, J, Norstrand, DW, Medeiros-Domingo, A, Tester, DJ, Valdivia, CR, Tan, BH, et al. LQTS-associated mutation A257 G in α1-syntrophin interacts with the intragenic variant P74 L to modify its biophysical phenotype. Cardiogenetics, 2011; 1(1): e13; https://www.pagepressjournals.org/index.php/cardiogen/article/view/cardiogenetics.2011.e13 (accessed 28 October 2018).Google Scholar
Cheng, J, Van Norstrand, DW, Medeiros-Domingo, A, Valdivia, C, Tan, BH, Ye, B, et al. Alpha1-syntrophin mutations identified in Sudden Infant Death Syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol, 2009; 2(6):667–76.Google Scholar
Tan, BH, Pundi, KN, Van Norstrand, DW, Valdivia, CR, Tester, DJ, Medeiros-Domingo, A, et al. Sudden Infant Death Syndrome-associated mutations in the sodium channel beta subunits. Heart Rhythm, 2010; 7(6):771–8.Google Scholar
Wang, DW, Desai, RR, Crotti, L, Arnestad, M, Insolia, R, Pedrazzini, M, et al. Cardiac sodium channel dysfunction in Sudden Infant Death Syndrome. Circulation, 2007; 115(3):368–76.Google Scholar
Plant, LD, Bowers, PN, Liu, Q, Morgan, T, Zhang, T, State, MW, et al. A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest, 2006; 116(2):430–5.Google Scholar
Van Norstrand, DW, Tester, DJ, Ackerman, MJ. Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American Sudden Infant Death Syndrome. Heart Rhythm, 2008; 5(5):712–15.Google Scholar
Gando, I, Morganstein, J, Jana, K, McDonald, TV, Tang, Y, Coetzee, WA. Infant sudden death: mutations responsible for impaired Nav1.5 channel trafficking and function. Pacing Clin Electrophysiol, 2017; 40(6):703–12.CrossRefGoogle ScholarPubMed
Tester, DJ, Ackerman, MJ. Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu Rev Med, 2009; 60:69–84.Google Scholar
Hof, T, Liu, H, Sallé, L, Schott, JJ, Ducreux, C, Millat, G, et al. TRPM4 non-selective cation channel variants in long QT syndrome. BMC Med Genet, 2017; 18(1):31.Google Scholar
Osawa, M, Kimura, R, Hasegawa, I, Mukasa, N, Satoh, F. SNP association and sequence analysis of the NOS1AP gene in SIDS. Leg Med (Tokyo), 2009; 11 Suppl 1:S307–8.Google Scholar
Eijgelsheim, M, Aarnoudse, AL, Rivadeneira, F, Kors, JA, Witteman, JC, Hofman, A, et al. Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration. Hum Mol Genet, 2009; 18(2):347–57.Google Scholar
Eijgelsheim, M, Newton-Cheh, C, Aarnoudse, AL, van Noord, C, Witteman, JC, Hofman, A, et al. Genetic variation in NOS1AP is associated with sudden cardiac death: evidence from the Rotterdam Study. Hum Mol Genet, 2009; 18(21):4213–18.Google Scholar
van Noord, C, Aarnoudse, AJ, Eijgelsheim, M, Sturkenboom, MC, Straus, SM, Hofman, A, et al. Calcium channel blockers, NOS1AP, and heart-rate-corrected QT prolongation. Pharmacogenet Genomics, 2009; 19(4):260–6.Google Scholar
Arnestad, M, Crotti, L, Rognum, TO, Insolia, R, Pedrazzini, M, Ferrandi, C, et al. Prevalence of long-QT syndrome gene variants in Sudden Infant Death Syndrome. Circulation, 2007; 115(3):361–7.Google Scholar
Haynes, RL, Frelinger, AL, Giles, EK, Goldstein, RD, Tran, H, Kozakewich, HP, et al. High serum serotonin in Sudden Infant Death Syndrome. Proc Natl Acad Sci USA, 2017; 114(29):7695–700.CrossRefGoogle ScholarPubMed
Kinney, HC, Thach, BT. The Sudden Infant Death Syndrome. N Engl J Med, 2009; 361(8):795–805.Google Scholar
Hilaire, G, Voituron, N, Menuet, C, Ichiyama, RM, Subramanian, HH, Dutschmann, M. The role of serotonin in respiratory function and dysfunction. Respir Physiol Neurobiol, 2010; 174(1–2):76–88.Google Scholar
Buchanan, GF, Richerson, GB. Central serotonin neurons are required for arousal to CO2. Proc Natl Acad Sci USA, 2010; 107(37):16354–9.Google Scholar
Narita, N, Narita, M, Takashima, S, Nakayama, M, Nagai, T, Okado, N. Serotonin transporter gene variation is a risk factor for Sudden Infant Death Syndrome in the Japanese population. Pediatrics, 2001; 107(4):690–2.Google Scholar
Weese-Mayer, DE, Berry-Kravis, EM, Maher, BS, Silvestri, JM, Curran, ME, Marazita, ML. Sudden Infant Death Syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet A, 2003; 117A(3):268–74.Google Scholar
Weese-Mayer, DE, Zhou, L, Berry-Kravis, EM, Maher, BS, Silvestri, JM, Marazita, ML. Association of the serotonin transporter gene with Sudden Infant Death Syndrome: a haplotype analysis. Am J Med Genet A, 2003; 122A(3):238–45.Google Scholar
Weese-Mayer, DE, Ackerman, MJ, Marazita, ML, Berry-Kravis, EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A, 2007; 143A(8):771–88.Google Scholar
Opdal, SH, Vege, A, Rognum, TO. Serotonin transporter gene variation in Sudden Infant Death Syndrome. Acta Paediatr, 2008; 97(7):861–5.Google Scholar
Filiano, JJ, Kinney, HC. A perspective on neuropathologic findings in victims of the Sudden Infant Death Syndrome: the triple-risk model. Biol Neonate, 1994; 65(3–4):194–7.Google Scholar
Kinney, HC, Filiano, JJ, Sleeper, LA, Mandell, F, Valdes-Dapena, M, White, WF. Decreased muscarinic receptor binding in the arcuate nucleus in Sudden Infant Death Syndrome. Science, 1995; 269(5229):1446–50.Google Scholar
Kinney, HC. Brainstem mechanisms underlying the Sudden Infant Death Syndrome: evidence from human pathologic studies. Dev Psychobiol, 2009; 51(3):223–33.CrossRefGoogle ScholarPubMed
Lavezzi, AM, Ferrero, S, Roncati, L, Matturri, L, Pusiol, T. Impaired orexin receptor expression in the Kölliker-Fuse nucleus in Sudden Infant Death Syndrome: possible involvement of this nucleus in arousal pathophysiology. Neurol Res, 2016; 38(8):706–16.Google Scholar
Pattyn, A, Goridis, C, Brunet, JF. Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. Mol Cell Neurosci, 2000; 15(3):235–43.Google Scholar
Pattyn, A, Hirsch, M, Goridis, C, Brunet, JF. Control of hindbrain motor neuron differentiation by the homeobox gene Phox2b. Development, 2000; 127(7):1349–58.Google Scholar
Liebrechts-Akkerman, G, Liu, F, Lao, O, Ooms, AH, van Duijn, K, Vermeulen, M, et al. PHOX2B polyalanine repeat length is associated with Sudden Infant Death Syndrome and unclassified sudden infant death in the Dutch population. Int J Legal Med, 2014; 128(4):621–9.Google ScholarPubMed
Wilson, RJ, Cumming, KJ. Pituitary adenylate-cyclase-activating polypeptide is vital for neonatal survival and the neuronal control of breathing. Respir Physiol Neurobiol, 2008; 164(1–2):168–78.Google Scholar
Farnham, MM, Pilowsky, PM. The role of PACAP in central cardiorespiratory regulation. Respir Physiol Neurobiol, 2010; 174(1–2):65–75.Google Scholar
Arata, S, Nakamachi, T, Onimaru, H, Hashimoto, H, Shioda, S. Impaired response to hypoxia in the respiratory center is a major cause of neonatal death of the PACAP-knockout mouse. Eur J Neurosci, 2013; 37(3):407–16.Google Scholar
Courts, C, Grabmüller, M, Madea, B. Monoamine oxidase A gene polymorphism and the pathogenesis of Sudden Infant Death Syndrome. J Pediatr, 2013; 163(1):89–93.Google Scholar
Gross, M, Bajanowski, T, Vennemann, M, Poetsch, M. Sudden Infant Death Syndrome (SIDS) and polymorphisms in monoamine oxidase A gene (MAOA): a revisit. Int J Legal Med, 2014; 128(1):43–9.Google Scholar
Kijima, K, Sasaki, A, Niki, T, Umetsu, K, Osawa, M, Matoba, R, Hayasaka, K. Sudden Infant Death Syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med, 2004; 203(1):65–8.Google Scholar
Li, A, Emond, L, Nattie, E. Brainstem catecholaminergic neurons modulate both respiratory and cardiovascular function. Adv Exp Med Biol, 2008; 605:371–6.Google Scholar
Klintschar, M, Heimbold, C. Association between a functional polymorphism in the MAOA gene and Sudden Infant Death Syndrome. Pediatrics, 2012; 129(3):e756–61.Google Scholar
Opdal, SH, Vege, A, Stray-Pedersen, A, Rognum, TO. Aquaporin-4 gene variation and Sudden Infant Death Syndrome. Pediatr Res, 2010; 68(1):48–51.CrossRefGoogle ScholarPubMed
Blackwell, CC, Moscovis, SM, Gordon, AE, Al Madani, OM, Hall, ST, Gleeson, M, et al. Ethnicity, infection, and Sudden Infant Death Syndrome. FEMS Immunol Med Microbiol, 2004; 42(1):53–65.Google Scholar
Blackwell, CC, Moscovis, SM, Gordon, AE, Al Madani, OM, Hall, ST, Gleeson, M, et al. Cytokine responses and Sudden Infant Death Syndrome: genetic, developmental, and environmental risk factors. J Leukoc Biol, 2005; 78(6):1242–54.Google Scholar
Gordon, AE, MacKenzie, DA, El Ahmer, OR, Al Madani, OM, Braun, JM, Weir, DM, et al. Evidence for a genetic component in Sudden Infant Death Syndrome. Child Care Health Dev, 2002; 28(Suppl 1):27–9.Google Scholar
Vege, A, Rognum, TO, Scott, H, Aasen, AO, Saugstad, OD. SIDS cases have increased levels of interleukin-6 in cerebrospinal fluid. Acta Paediatr, 1995; 84(2):193–6.Google Scholar
Arnestad, M, Andersen, M, Vege, A, Rognum, TO. Changes in the epidemiological pattern of Sudden Infant Death Syndrome in southeast Norway, 1984–1998: implications for future prevention and research. Arch Dis Child, 2001; 85(2):108–15.Google Scholar
Moscovis, SM, Gordon, AE, Al Madani, OM, Gleeson, M, Scott, RJ, Roberts-Thomson, J, et al. Interleukin-10 and Sudden Infant Death Syndrome. FEMS Immunol Med Microbiol, 2004; 42(1):130–8.Google Scholar
Moscovis, SM, Gordon, AE, Al Madani, OM, Gleeson, M, Scott, RJ, Roberts-Thomson, J, et al. IL6 G-174 C associated with Sudden Infant Death Syndrome in a caucasian Australian cohort. Hum Immunol, 2006; 67(10):819–25.Google Scholar
Moscovis, SM, Gordon, AE, Al Madani, OM, Gleeson, M, Scott, RJ, Hall, ST, et al. Genetic and Environmental Factors Affecting TNF-α Responses in Relation to Sudden Infant Death Syndrome. Front Immunol, 2015; 6:374.Google Scholar
Moscovis, SM, Gordon, AE, Al Madani, OM, Gleeson, M, Scott, RJ, Hall, ST, et al. Virus infections and sudden death in infancy: the role of interferon-γ. Front Immunol, 2015; 6:107.Google Scholar
Summers, AM, Summers, CW, Drucker, DB, Hajeer, AH, Barson, A, Hutchinson, IV. Association of IL-10 genotype with Sudden Infant Death Syndrome. Hum Immunol, 2000; 61(12):1270–3.Google Scholar
Ferrante, L, Opdal, SH. Sudden Infant Death Syndrome and the genetics of inflammation. Front Immunol, 2015; 6:63.Google Scholar
Ferrante, L, Opdal, SH, Vege, A, Rognum, TO. IL-1 gene cluster polymorphisms and Sudden Infant Death Syndrome. Hum Immunol, 2010; 71(4):402–6.CrossRefGoogle ScholarPubMed
Arnestad, M, Vege, A, Rognum, TO. Evaluation of diagnostic tools applied in the examination of sudden unexpected deaths in infancy and early childhood. Forensic Sci Int, 2002; 125(2–3):262–8.CrossRefGoogle ScholarPubMed
Rognum, IJ, Haynes, RL, Vege, A, Yang, M, Rognum, TO, Kinney, HC. Interleukin-6 and the serotonergic system of the medulla oblongata in the Sudden Infant Death Syndrome. Acta Neuropathol, 2009; 118(4):519–30.Google Scholar
Schneider, PM, Wendler, C, Riepert, T, Braun, L, Schacker, U, Horn, M, et al. Possible association of sudden infant death with partial complement C4 deficiency revealed by post-mortem DNA typing of HLA class II and III genes. Eur J Pediatr, 1989; 149(3):170–4.Google Scholar
Weber, MA, Klein, NJ, Hartley, JC, Lock, PE, Malone, M, Sebire, NJ. Infection and sudden unexpected death in infancy: a systematic retrospective case review. Lancet, 2008; 371(9627):1848–53.Google Scholar
Thach, BT. Potential central nervous system involvement in sudden unexpected infant deaths and the Sudden Infant Death Syndrome. Compr Physiol, 2015; 5(3):1061–8.Google Scholar
Côté, A. Investigating sudden unexpected death in infancy and early childhood. Paediatr Respir Rev, 2010; 11(4):219–25.Google Scholar
Lundemose, JB, Kølvraa, S, Gregersen, N, Christensen, E, Gregersen, M. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0–4 years. Mol Pathol, 1997; 50(4):212–17.CrossRefGoogle ScholarPubMed
Moczulski, D, Majak, I, Mamczur, D. An overview of beta-oxidation disorders. Postepy Hig Med Dosw (online), 2009; 63:266–77.Google Scholar
Adgent, MA. Environmental tobacco smoke and Sudden Infant Death Syndrome: a review. Birth Defects Res B Dev Reprod Toxicol, 2006; 77(1):69–85.Google Scholar
Poetsch, M, Czerwinski, M, Wingenfeld, L, Vennemann, M, Bajanowski, T. A common FMO3 polymorphism may amplify the effect of nicotine exposure in Sudden Infant Death Syndrome (SIDS). Int J Legal Med, 2010; 124(4):301–6.Google Scholar
Duncan, JR, Paterson, DS, Kinney, HC. The development of nicotinic receptors in the human medulla oblongata: inter-relationship with the serotonergic system. Auton Neurosci, 2008; 144(1–2):61–75.Google Scholar
Touiki, K, Rat, P, Molimard, R, Chait, A, de Beaurepaire, R. Effects of tobacco and cigarette smoke extracts on serotonergic raphe neurons in the rat. Neuroreport, 2007; 18(9):925–9.Google Scholar
Say, M, Machaalani, R, Waters, KA. Changes in serotoninergic receptors 1 A and 2 A in the piglet brainstem after intermittent hypercapnic hypoxia (IHH) and nicotine. Brain Res, 2007; 1152:17–26.Google Scholar
Ramirez, S, Allen, T, Villagracia, L, Chae, Y, Ramirez, JM, Rubens, DD. Inner ear lesion and the differential roles of hypoxia and hypercarbia in triggering active movements: potential implication for the Sudden Infant Death Syndrome. Neuroscience, 2016; 337:9–16.Google Scholar
Allen, T, Garcia Iii, AJ, Tang, J, Ramirez, JM, Rubens, DD. Inner ear insult ablates the arousal response to hypoxia and hypercarbia. Neuroscience, 2013; 253:283–91.CrossRefGoogle ScholarPubMed
SIDS Research Guild website: https://www.lullabytrust.org.uk/safer-sleep-advice/what-is-sids/ (accessed 13 November 2017).Google Scholar
Rubens, DD, Vohr, BR, Tucker, R, O’Neil, CA, Chung, W. Newborn oto-acoustic emission hearing screening tests: preliminary evidence for a marker of susceptibility to SIDS. Early Hum Dev, 2008; 84(4):225–9.Google Scholar
Rubens, D, Sarnat, HB. Sudden Infant Death Syndrome: an update and new perspectives of etiology. Handb Clin Neurol, 2013; 112:867–74.Google Scholar
Gardner, JM, Sutherland, GR, Shaffer, LG. Chromosome Abnormalities and Genetic Counseling. 4th edn. Oxford Monographs on Medical Genetics. Oxford University Press, 2012.Google Scholar
Pinkel, D, Segraves, R, Sudar, D, Clark, S, Poole, I, Kowbel, D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet, 1998; 20(2):207–11.Google Scholar
Miller, DT, Adam, MP, Aradhya, S, Biesecker, LG, Brothman, AR, Carter, NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet, 2010; 86(5):749–64.Google Scholar
Robson, SC, Chitty, LS, Morris, S, et al. Evaluation of array comparative genomic hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional, and commissioner preferences for array comparative genomic hybridisation. Efficacy and Mechanism Evaluation, 2017, 4(1):eme04010 https://www.ncbi.nlm.nih.gov/books/NBK423961/  (accessed 31 October 2018).CrossRefGoogle Scholar
Stranneheim, H, Lundeberg, J. Stepping stones in DNA sequencing. Biotechnol J, 2012; 7(9):1063–73.Google Scholar
Chiara, M, Pavesi, G. Evaluation of quality assessment protocols for high throughput genome resequencing data. Front Genet, 2017; 8:94.Google Scholar

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