Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

International Journal of Legal Medicine

Volumn 129, Issue 3, 2015, Pages 495-504

  Partemi, Sara ^a,b   Vidal, Monica Coll ^a,b   Striano, Pasquale ^c   Campuzano, Oscar ^b   Allegue, Catarina ^b   Pezzella, Marianna ^c   Elia, Maurizio ^d   Parisi, Pasquale ^e   Belcastro, Vincenzo ^f   Casellato, Susanna ^g   Giordano, Lucio ^h   Mastrangelo, Massimo ⁱ   Pietrafusa, Nicola ^j   Striano, Salvatore ^k   Zara, Federico ^l   Bianchi, Amedeo ^m   Buti, Daniela ⁿ   La Neve, Angela ^j   Tassinari, Carlo Alberto ^o   Oliva, Antonio ^a   Brugada, Ramon ^b   more..

^a CATHOLIC UNIVERSITY   (Italy)

^b GIRONA BIOMEDICAL RESEARCH INSTITUTE IDIBGI   (Spain)

^c UNIVERSITY OF GENOA   (Italy)

^d OASI RESEARCH INSTITUTE IRCCS   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f SANT ANNA HOSPITAL   (Italy)

^g UNIVERSITY OF SASSARI   (Italy)

^h Pediatric Neuropsychiatric Division   (Italy)

ⁱ V BUZZI CHILDREN S HOSPITAL   (Italy)

^j UNIVERSITY OF BARI   (Italy)

^k UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^l G GASLINI INSTITUTE   (Italy)

^m IRCCS POLICLINICO SAN DONATO   (Italy)

ⁿ UNIVERSITY OF FLORENCE   (Italy)

^o UNIVERSITY OF BOLOGNA   (Italy)

more..

Author keywords

Brugada syndrome; Cardiac arrhythmias; Channelopathy; Epilepsy; Long QT syndrome; Sudden unexplained death in epilepsy

Indexed keywords

STOP CODON;

ALLELE; BRUGADA SYNDROME; CHANNELOPATHY; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; DNA SEQUENCE; EPIDEMIOLOGY; EPILEPSY; ETIOLOGY; FORENSIC GENETICS; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HEART ARRHYTHMIA; HETEROZYGOTE DETECTION; HUMAN; INCIDENCE; LONG QT SYNDROME; MISSENSE MUTATION; MORTALITY; NUCLEOTIDE SEQUENCE; STOP CODON; SUDDEN DEATH;

ALLELES; ARRHYTHMIAS, CARDIAC; BRUGADA SYNDROME; CHANNELOPATHIES; CODON, NONSENSE; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DEATH, SUDDEN; DNA MUTATIONAL ANALYSIS; EPILEPSY; FORENSIC GENETICS; GENETIC TESTING; GENETIC VARIATION; HETEROZYGOTE DETECTION; HUMANS; INCIDENCE; LONG QT SYNDROME; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84939874727     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-014-1063-4     Document Type: Article

References (56)

1. Annegers JF (2001) The epidemiology of epilepsy. In: Wyllie E (ed) The treatment of epilepsy: principles and practice, 3rd edn. Lippincott Williams & Wilkins, Philadelphia, pp 131–138
2. Shorvon S, Tomson T (2011) Sudden unexpected death in epilepsy. Lancet 378(9808):2028–38
3. Hughes JR (2009) A review of sudden unexpected death in epilepsy: prediction of patients at risk. Epilepsy Behav 14:280–287
4. Lhatoo SD, Johnson AL, Goodridge DM et al (2001) Mortality in epilepsy in the first 11 to 14 years after diagnosis: multivariate analysis of a long-term, prospective, population-based cohort. Ann Neurol 49:336–344
5. Walczak TS, Leppik IE, D’Amelio M et al (2001) Incidence and risk factors in sudden unexpected death in epilepsy: a prospective cohort study. Neurology 56:519–525
6. Johnston A, Smith P (2007) Sudden unexpected death in epilepsy. Expert Rev Neurother 7:1751–1761
7. Lee BI, Heo K (2014) Epilepsy: new genes, new technologies, new insights. Lancet Neurol 13(1):7–9
8. Nashef L et al (2007) Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms. Epilepsia 48(5):859–871
9. Jansen K, Lagae L (2010) Cardiac changes in epilepsy. Seizure 19:455–460
10. Kim JB (2014) Channelopathies. Korean J Pediatr 57(1):1–18
11. Nashef L, Hindocha N, Makoff A (2007) Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms. Epilepsia 48:859–871
12. Glasscock E, Yoo JW, Chen TT et al (2010) Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci 30(15):5167–75
13. Haugaa KH, Vestervik TT, Andersson S, Amlie JP, Jørum E, Gjerstad L, Taubøll E. Abnormal electroencephalograms in patients with long QT syndrome. Heart Rhythm. 2013 Sep 27. pii: S1547-5271(13)01081-3
14. Sandorfi G, Clemens B, Csanadi Z (2013) Electrical storm in the brain and in the heart: epilepsy and Brugada syndrome. Mayo Clin Proc 88(10):1167–1173
15. Jeppesen J, Fuglsang-Frederiksen A, Brugada R, Pedersen B, Rubboli G, Johansen P, Beniczky S (2014) Heart rate variability analysis indicates preictal parasympathetic overdrive preceding seizure-induced cardiac dysrhythmias leading to sudden unexpected death in a patient with epilepsy. Epilepsia
16. Klassen TL, Bomben VC, Patel A et al (2014) High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia 55(2):e6–12
17. Kersey PJ et al (2012) Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species. Nucleic Acids Res 40:D91
18. A map of human genome variation from population-scale sequencing. Nature 467, 1061 (Oct 28, 2010)
19. Stenson PD et al (2003) Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 21:577
20. S. T. Sherry et al., dbSNP: the NCBI database of genetic variation. Nucleic acids research 29, 308 (Jan 1, 2001).
21. Gonzalez-Perez A, Lopez-Bigas N (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 88:440
22. Schwarz JM, Rödelsperger C, Schuelke M et al (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7(8):575–6
23. den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109(1):121–4
24. Surges R, Thijs RD, Tan HL (2009) Sander JW Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms. Nat Rev Neurol 5:492–504
25. Campuzano O, Beltrán-Alvarez P, Iglesias A et al (2010) Genetics and cardiac channelopathies. Genet Med 12(5):260–7
26. Heron SE, Hernandez M, Edwards C et al (2010) Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy. Epilepsia 51:293–296
27. Johnson JN, Hofman N, Haglund CM et al (2009) Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology 72:224–231
28. Catalano O, Antonaci S, Moro G et al (2009) Magnetic resonance investigations in Brugada syndrome reveal unexpectedly high rate of structural abnormalities. Eur Heart J 30(18):2241–2248
29. Tu E, Bagnall RD, Duflou J et al (2011) Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol 21:201–208
30. Anderson JH, Bos JM, Meyer FB et al (2012) Concealed long QT syndrome and intractable partial epilepsy: a case report. Mayo Clin Proc 87:1128–1131
31. Partemi S, Cestèle S, Pezzella M et al (2013) Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Epilepsia 54(8):e112–6
32. Zamorano-León JJ, Yañez R, Jaime G et al (2012) KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome. J Neurogenet 26(3–4):382–6
33. Parisi P, Oliva A, Coll Vidal M et al (2013) Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation. Epilepsy Res 105(3):415–8
34. Campuzano O, Berne P, Selga E, Allegue C, Iglesias A, Brugada J, Brugada R, Brugada syndrome and p.E61X_ RANGRF. Cardiol J. 2014 Mar 27
35. Omichi C, Momose Y, Kitahara S (2010) Congenital long QT syndrome presenting with a history of epilepsy: misdiagnosis or relationship between channelopathies of the heart and brain? Epilepsia 51(2):289–92
36. Arbustini E, Scaffino MF, Diegoli M et al (2005) Gene symbol: SCN5A. Disease: Brugada syndrome. Hum Genet 118(3-4):536
37. Risgaard B, Jabbari R, Refsgaard L et al (2013) High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet 84(5):489–95
38. Vatta M, Dumaine R, Varghese G et al (2002) Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 11(3):337–45
39. Nakajima T, Kaneko Y, Saito A et al (2011) Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. Int Heart J 52(1):27–31
40. Wang Q, Chen S, Chen Q et al (2004) The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet 41(5):e66
41. Sun A, Xu L, Wang S et al (2008) SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family. J Med Genet 45:127–128
42. Hwang HW, Chen JJ, Lin YJ et al (2005) R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet 42(2):e7
43. Refsgaard L, Holst AG, Sadjadieh G et al (2012) High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 20(8):905–8
44. Wang Q, Chen S, Chen Q, Wan X, Shen J, Hoeltge GA, Timur AA, et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet 2004
45. Tan BH, Valdivia CR, Rok BA et al (2005) Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2(7):741–7
46. Ackerman MJ, Splawski I, Makielski JC et al (2004) Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 1(5):600–7
47. Nishio H, Kuwahara M, Tsubone H et al (2009) Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model. Int J Legal Med 123(3):253–7
48. Giudicessi JR, Kapplinger JD, Tester DJ et al (2012) Phylogenetic and physicochemical analyses enhance the classification of rare non-synonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet 5:519–528
49. Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME. Mayo Clin Proc. 2003 Dec;78(12):1479-87
50. Yang T, Chung SK, Zhang W et al (2009) Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. Circ Arrhythm Electrophysiol 2(4):417–26
51. Khositseth A, Tester DJ, Will ML et al (2004) Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm 1(1):60–4
52. Nishio Y, Makiyama T, Itoh H et al (2009) D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. J Am Coll Cardiol 54(9):812–9
53. Lieve KV, Williams L, Daly A et al (2013) Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomark 17(7):553–61
54. Yoshikane Y, Yoshinaga M, Hamamoto K et al (2013) A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm 10(4):600–3
55. Madea B, Saukko P, Oliva A et al (2010) Molecular pathology in forensic medicine—introduction. Forensic Sci Int 203(1–3):3–14
56. Partemi S, Berne PM, Batlle M et al (2010) Analysis of mRNA from human heart tissue and putative applications in forensic molecular pathology. Forensic Sci Int 203(1–3):99–105