Genetics of idiopathic generalized epilepsy: An overview

Neurology India

Volumn 61, Issue 6, 2013, Pages 572-577

  Prasad, D K V ^a,b   Satyanarayana, U ^c   Munshi, Anjana ^a  

^a OSMANIA UNIVERSITY   (India)

^b Dr NTR University of Health Sciences   (India)

^c Dr Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation   (India)

Author keywords

Genetic diseases; high throughput technologies; idiopathic generalized epilepsy; microarrays; monogenic inherited epilepsies; sequencing

Indexed keywords

EPILEPSY, GENERALIZED; HUMANS;

EID: 84894142379     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.125240     Document Type: Review

References (65)

1. Begley CE, Baker GA, Beghi E, Butler J, Chisholm D, Langfitt JT, et al. Cross-country measures for monitoring epilepsy care. Epilepsia 2007;48:990-1001.
2. Berkovic S F, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: Genetics of the major epilepsy syndromes. Ann Neurol 1998;43:435-45.
3. Afawi Z, Suls A, Ekstein D, Kivity S, Neufeld MY, Oliver K, et al. Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. Epilepsia 2010;51:2466-9.
4. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989;30:389-99.
5. Corey LA, Berg K, Pellock JM, Solaas MH, Nance WE, DeLorenzo RJ. The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 1991;41:1433-6.
6. Harvald B, Hauge M. Hereditary factors elucidated by twin studies. In: Neel J V, Shaw M W, Schull WJ, editors. Genetics and the Epidemiology of Chronic Diseases. Washington D. C.: U. S. Department of Health, Education and Welfare; 1965. p. 61-76. Public Health Services Publication no. 1163.
7. Inouye E. Observations on forty twin index cases with chronic epilepsy and their co-twins. J Nerv Ment Dis 1960;130:401-16.
8. Lennox WG, Lennox MA. Epilepsy and Related Disorders. Boston: Little Brown; 1960.
9. Sillanpää M, Koskenvuo M, Romanov K, Kaprio J. Genetic factors in epileptic seizures: Evidence from a large twin population. Acta Neurol Scand 1991;84:523-6.
10. Weber YG, Lerche H. Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol 2008;50:648-54.
11. Stafstrom CE. Severe epilepsy syndromes of early childhood: The link between genetics and pathophysiology with a focus on SCN1A mutations. J Child Neurol 2009;24:15S-23.
12. Kaneko S, Wada K. Molecular genetic studies of epilepsies. No To Shinkei 1998;50:1071-7.
13. Delgado-Escueta AV, Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, et al. Progress in mapping human epilepsy genes. Epilepsia 1994;35 Suppl 1:S29-40.
14. Callenbach PM, Geerts AT, Arts W F, van Donselaar CA, Peters AC, Stroink H, et al. Familial occurrence of epilepsy in children with newly diagnosed multiple seizures: Dutch Study of Epilepsy in Childhood. Epilepsia 1998;39:331-6.
15. Berg AT, Levy SR, Testa FM, Shinnar S. Classification of childhood epilepsy syndromes in newly diagnosed epilepsy: Interrater agreement and reasons for disagreement. Epilepsia 1999;40:439-44.
16. Steinlein O, Sander T, Stoodt J, Kretz R, Janz D, Propping P. Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. Am J Med Genet 1997;74:445-9.
17. Fong CY, Shah PU, Huang Y, Gee M, Medina MT, Zhao HZ, et al. Childhood absence epilepsy in an Indian (Bombay) family maps to chromosome 8q24. Neurology 1998;4:53007.
18. Sugimoto Y, Morita R, Amano K, Fong CY, Shah PU, Castroviejo I P, et al. Childhood absence epilepsy in 8q24: Refinement of candidate region and construction of physical map. Genomics 2000;68:264-72.
19. Sander T, Hildmann T, Kretz R, Fürst R, Sailer U, Bauer G, et al. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. Am J Med Genet 1997;74:416-21.
20. Bond C, LaForge KS, Tian M, Melia D, Zhang S, Borg L, et al. Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: Possible implications for opiate addiction. Proc Natl Acad Sci U S A 1998;95:9608-13.
21. Zhang Y, Wang D, Johnson AD, Papp AC, Sadée W. Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. J Biol Chem 2005;280:32618-24.
22. Sander T, Berlin W, Gscheidel N, Wendel B, Janz D, Hoehe MR. Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. Epilepsy Res 2000;39:57-61.
23. Barratt C, Lai T, Nashef L, Valentin A, Fisniku L, Moran N, et al. No association of single nucleotide polymorphisms in the micro-opioid receptor subunit gene with idiopathic generalized epilepsy. Epilepsia 2006;47:1728-31.
24. EPICURE Consortium, EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, et al. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012;21:5359-72.
25. Janz D, Christian W. Impulsive-petit mal. J Neurol (Zeiitschriftf Nervenheilkunde) 1957;176:344-86.
26. Martínez-Juárez IE, Alonso ME, Medina MT, Durón RM, Bailey JN, López-Ruiz M, et al. Juvenile myoclonic epilepsy subsyndromes: Family studies and long-term follow-up. Brain 2006;129:1269-80.
27. Pal DK, Evgrafov O V, Tabares P, Zhang F, Durner M, Greenberg DA. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 2003;73:261-70.
28. Greenberg DA, Cayanis E, Strug L, Marathe S, Durner M, Pal DK, et al. Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 2005;76:139-46.
29. Mas C, Taske N, Deutsch S, Guipponi M, Thomas P, Covanis A, et al. Association of the connexin36 gene with juvenile myoclonic epilepsy. J Med Genet 2004;41:e93.
30. Hempelmann A, Heils A, Sander T. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. Epilepsy Res 2006;71:223-8.
31. Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez- Juárez IE, Bailey JN, et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 2008;70(22 Pt 2):2137-44.
32. Cossette P. Channelopathies and juvenile myoclonic epilepsy. Epilepsia 2010;51 Suppl 1:30-2.
33. Cossette P, Lortie A, Vanasse M, Saint-Hilaire JM, Rouleau GA. Autosomal dominant juvenile myoclonic epilepsy and GABRa1. In: Advances in Neurology, Myoclonic Epilepsies. Vol. 95. Philadelphia: Lippincott Williams and Wilkins; 2005. p. 255-64.
34. Kapoor A, Vijai J, Ravishankar HM, Satishchandra P, Radhakrishnan K, Anand A. Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India. J Genet 2003;82:17-21.
35. Mehndiratta MM, Rao KB, Singh S, Ganesh S, Khwaja GA. Genetic study of juvenile myoclonic epilepsy (JME) patients and their family members in a University Hospital in North India. Neurol Asia 2007;12 Suppl 1:105-6.
36. Delgado-Escueta AV. Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr 2007;7:61-7.
37. Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, et al. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66:1531-9.
38. Helbig I, Hartmann C, Mefford HC. The unexpected role of copy number variations in juvenile myoclonic epilepsy. Epilepsy Behav 2013;28 Suppl 1:S66-8.
39. Lemke JR, Beck-Wödl S, Zankl A, Riegel M, Krämer G, Dorn T. Juvenile myoclonic epilepsy with photosensitivity in a female with velocardiofacial syndrome (del (22) (q11.2)) - Causal relationship or coincidence? Seizure 2009;18:660-3.
40. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322-8.
41. Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009;41:160-2.
42. Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance. Hum Mol Genet 2009;18:3626-31.
43. de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010;133:23-32.
44. Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, Need AC, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010;86:707-18.
45. Mefford HC, Eichler EE. Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev 2009;19:196-204.
46. Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010;6:e1000962.
47. Helbig I, Scheffer IE, Mulley JC, Berkovic S F. Navigating the channels and beyond: Unravelling the genetics of the epilepsies. Lancet Neurol 2008;7:231-45.
48. Kasperaviciute D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, et al. Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study. Brain 2010;133:2136-47.
49. Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 2010;19:3477-81.
50. Janz D. Epilepsy with grand mal on awakening and sleep-waking cycle. Clin Neurophysiol 2000;111 Suppl 2:S103-10.
51. Wallace RH, Wang D W, Singh R, Scheffer IE, George AL Jr, Phillips HA, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 1998;19:366-70.
52. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;126:531-46.
53. Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci 2004;24:2690-8.
54. Rhodes TH, Lossin C, Vanoye CG, Wang D W, George AL Jr. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A 2004;101:11147-52.
55. Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. Adv Neurol 2005;95:127-37.
56. nd ed. London: John Libbey; 1992. p. 75-88.
57. Vigevano F, Fusco L, Di Capua M, Ricci S, Sebastianelli R, Lucchini P. Benign infantile familial convulsions. Eur J Pediatr 1992;151:608-12.
58. Caraballo RH, Cersósimo RO, Espeche A, Fejerman N. Benign familial and non-familial infantile seizures: A study of 64 patients. Epileptic Disord 2003;5:45-9.
59. Callenbach PM, de Coo R F, Vein AA, Arts W F, Oosterwijk J, Hageman G, et al. Benign familial infantile convulsions: A clinical study of seven Dutch families. Eur J Paediatr Neurol 2002;6:269-83.
60. Caraballo RH, Cersósimo RO, Amartino H, Szepetowski P, Fejerman N. Benign familial infantile seizures: Further delineation of the syndrome. J Child Neurol 2002;17:696-9.
61. Wilkie H, Osei-Lah A, Chioza B, Nashef L, McCormick D, Asherson P, et al. Association of mu-opioid receptor subunit gene and idiopathic generalized epilepsy. Neurology 2002;59:724-8.
62. Tan EK, Chai A, Teo YY, Zhao Y, Tan C, Shen H, et al. Alpha-synuclein haplotypes implicated in risk of Parkinson's disease. Neurology 2004;62:128-31.
63. Poduri A, Lowenstein D. Epilepsy genetics - Past, present, and future. Curr Opin Genet Dev 2011;21:325-32.
64. Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet 2012;91:293-302.
65. Price AL, Kryukov G V, de Bakker PI, Purcell SM, Staples J, Wei LJ, et al. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010;86:832-8.