Genetics in clinical epilepsy: Issues in genetic testing and counseling

Journal of Pediatric Epilepsy

Volumn 1, Issue 3, 2012, Pages 135-142

  Sheidley, Beth Rosen ^a   Poduri, Annapurna ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Epilepsy; Epilepsy genes; Genetic counseling; Genetics

Indexed keywords

EID: 85013591323     PISSN: 2146457X     EISSN: 21464588     Source Type: Journal    
DOI: 10.3233/PEP-2012-023     Document Type: Article

References (50)

1. Grill MF, Losey TE, Ng YT. The Hitchhiker’s guide to the child neurologist’s genetic evaluation of epilepsy. Semin Pediatr Neurol 2008;15(1): 32-40.
2. Poduri A, Lowenstein D. Epilepsy genetics-past, present, and future. Curr Opin Genet Dev 2011;21(3): 325-32.
3. Scheffer IE. Genetic testing in epilepsy: what should you be doing? Epilepsy Curr 2011;11(4): 107-11.
4. Deprez L, Jansen A, De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009;72(3): 273-81.
5. Ottman R, Hirose S, Jain S, Lerche H, Lopes-Cendes I, Noebels JL, et al. Genetic testing in the epilepsies-report of the ILAE Genetics Commission. Epilepsia 2010;51(4): 655-70.
6. Delgado-Escueta AV, Bourgeois BF. Debate: Does genetic information in humans help us treat patients? PRO-genetic information in humans helps us treat patients. CON-genetic information does not help at all. Epilepsia 2008;49(Suppl. 9):13-24.
7. Trevathan E. So what? Does the test lead to improved health outcomes? Neurology 2011;77(17): 1586-7.
8. Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40(6): 782-8.
9. Fadiman A. The spirit catches you and you fall down: a Hmong child, her American doctors, and the collision of two cultures. 1st ed. New York: Farrar, Straus, and Giroux; 1997.
10. Seidner G, Alvarez MG, Yeh JI, O’Driscoll KR, Klepper J, Stump TS, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18(2): 188-91.
11. Eadie MJ, Bladin PF. A disease once sacred: a history of the medical understanding of epilepsy. Eastleigh: John Libbey; 2001.
12. Phelan JC. Geneticization of deviant behavior and consequences for stigma: the case of mental illness. J Health Soc Behav 2005;46(4): 307-22.
13. Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 1998;39(5): 508-12.
14. Ceulemans B, Boel M, Claes L, Dom L, Willekens H, Thiry P, et al. Severe myoclonic epilepsy in infancy: toward an optimal treatment. J Child Neurol 2004;19(7): 516-21.
15. Mullen SA, Marini C, Suls A, Mei D, Della Giustina E, Buti D, et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 2011;68(9): 1152-5.
16. Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010;75(5): 432-40.
17. Nickels K, Wirrell E. GLUT1-ous maximus epilepticus: the expanding phenotype of GLUT-1 mutations and epilepsy. Neurology 2010;75(5): 390-1.
18. Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, et al. Chromosomal microarray testing influences medical management. Genet Med 2011;13(9): 770-6.
19. Helbig KL, Bernhardt BA, Conway LJ, Valverde KD, Helbig I, SperlingMR. Genetic risk perception and reproductive decision making among people with epilepsy. Epilepsia 2010;51(9): 1874-7.
20. Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genet Med. 2008;10(4): 301-5.
21. Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, et al. Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia 2011; 52 (7): 1251-7.
22. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, et al. Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 2010;75(7): 646-53.
23. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, et al. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 2011;32(1):E1959-75.
24. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics 2010;125(4):e727-35.
25. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2011;77(17): 1629-35.
26. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004;19(9): 643-9.
27. Bennett RL. The practical guide to the genetic family history. 2nd ed. Hoboken: Wiley-Blackwell; 2010.
28. Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008;17(5): 424-33.
29. Bakkaloglu B, O’Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008;82(1): 165-73.
30. Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA, et al. CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 2003;82(1): 1-9.
31. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006;354(13): 1370-7.
32. 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(Suppl. 8):15S-23S.
33. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007;130(Pt 3):843-52.
34. Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, et al. Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004;45(2): 140-8.
35. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58(7): 1122-4.
36. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009;46(3): 183-91.
37. Ceulemans BP, Claes LR, Lagae LG. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 2004;30(4): 236-43.
38. Biesecker LG. Editorial comment on "Whole exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria". Am J Med Genet A 2011;155A(9):2069-70.
39. National Society of Genetic Counselors’ Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, et al. A new definition of Genetic Counseling:National Society of Genetic Counselors’ Task Force report. J Genet Couns 2006;15(2): 77-83.
40. Bennett RL, Hampel HL, Mandell JB, Marks JH. Genetic counselors: translating genomic science into clinical practice. J Clin Invest 2003;112(9): 1274-9.
41. Veach PM, LeRoy B, Bartels DM. Genetic counseling practice:advanced concepts and skills. Hoboken: Wiley-Blackwell; 2010.
42. Godard B, Cardinal G. Ethical implications in genetic counseling and family studies of the epilepsies. Epilepsy Behav 2004;5(5): 621-6.
43. Shostak S, Ottman R. Ethical, legal, and social dimensions of epilepsy genetics. Epilepsia 2006;47(10): 1595-602.
44. Winawer MR, Shinnar S. Genetic epidemiology of epilepsy or what do we tell families? Epilepsia 2005;46 Suppl 10:24-30.
45. Austin JC, Palmer CG, Rosen-Sheidley B, Veach PM, Gettig E, Peay HL. Psychiatric disorders in clinical genetics II: Individualizing recurrence risks. J Genet Couns 2008;17(1): 18-29.
46. Peay HL, Veach PM, Palmer CG, Rosen-Sheidley B, Gettig E, Austin JC. Psychiatric disorders in clinical genetics I: Addressing family histories of psychiatric illness. J Genet Couns 2008;17(1): 6-17.
47. Smoller JW, Sheidley BR, Tsuang MT. Psychiatric genetics:applications in clinical practice. 1st ed. Washington, DC:American Psychiatric Pub; 2008.
48. Mercer L, Creighton S, Holden JJ, Lewis ME. Parental perspectives on the causes of an autism spectrum disorder in their children. J Genet Couns 2006;15(1): 41-50.
49. Selkirk CG, McCarthy Veach P, Lian F, Schimmenti L, LeRoy BS. Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. J Genet Couns 2009;18(5): 507-19.
50. Uhlmann WR, Schuette JL, Yashar BM. A guide to genetic counseling. 2nd ed. Hoboken, NJ: Wiley-Blackwell; 2009.