Early-life epilepsies and the emerging role of genetic testing

JAMA Pediatrics

Volumn 171, Issue 9, 2017, Pages 863-871

  Berg, Anne T ^a,b   Coryell, Jason ^c   Saneto, Russell P ^d,e   Grinspan, Zachary M ^f,g,h   Alexander, John J ⁱ   Kekis, Mariana ⁱ   Sullivan, Joseph E ^j   Wirrell, Elaine C ^k   Shellhaas, Renée A ^l   Mytinger, John R ^m,n   Gaillard, William D ^o   Kossoff, Eric H ^p   Valencia, Ignacio ^q   Knupp, Kelly G ^r,s   Wusthoff, Courtney ^t   Keator, Cynthia ^u   Dobyns, William B ^d,e   Ryan, Nicole ^v   Loddenkemper, Tobias ^w   Chu, Catherine J ^x   Novotny, Edward J ^d,e,y   Koh, Sookyong ⁱ   more..

^a CHILDREN'S MEMORIAL HOSPITAL   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d SEATTLE CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF WASHINGTON   (United States)

^f WEILL CORNELL MEDICAL COLLEGE   (United States)

^g NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^h Health Information Technology Evaluation Collaborative   (United States)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k MAYO CLINIC   (United States)

^l UNIVERSITY OF MICHIGAN   (United States)

^m OHIO STATE UNIVERSITY   (United States)

ⁿ NATIONWIDE CHILDREN S HOSPITAL   (United States)

^o GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^p JOHNS HOPKINS HOSPITAL   (United States)

^q DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^r University of Colorado Denver and Children s Hospital Colorado   (United States)

^s UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^t STANFORD UNIVERSITY   (United States)

^u Neurosciences Research Center   (United States)

^v UNIVERSITY OF PENNSYLVANIA   (United States)

^w HARVARD MEDICAL SCHOOL   (United States)

^x MASSACHUSETTS GENERAL HOSPITAL   (United States)

^y SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BODY DYSMORPHIC DISORDER; BRAIN MALFORMATION; CHILD; COHORT ANALYSIS; EPILEPSY; EXOME; FEMALE; GENETIC SCREENING; GENETIC VARIATION; HUMAN; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MICROARRAY ANALYSIS; MITOCHONDRION; MULTICENTER STUDY; NEUROIMAGING; OBSERVATIONAL STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; TUBEROUS SCLEROSIS; ADOLESCENT; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; INFANT; PRESCHOOL CHILD; PROCEDURES; UNITED STATES;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EPILEPSY; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; MALE; PROSPECTIVE STUDIES; UNITED STATES;

EID: 85028973765     PISSN: 21686203     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamapediatrics.2017.1743     Document Type: Article

References (56)

1. Camfield CS, Camfield PR, Gordon K, Wirrell E, Dooley JM. Incidence of epilepsy in childhood and adolescence: a population-based study in Nova Scotia from 1977 to 1985. Epilepsia. 1996;37(1): 19-23.
2. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 1989;30(4):389-399.
3. Camfield C, Camfield P. Twenty years after childhood-onset symptomatic generalized epilepsy the social outcome is usually dependency or death: a population-based study. Dev Med Child Neurol. 2008;50(11):859-863.
4. Glauser TA. Topiramate in the catastrophic epilepsies of childhood. J Child Neurol. 2000;15(suppl 1):S14-S21.
5. Glauser TA. Following catastrophic epilepsy patients from childhood to adulthood. Epilepsia. 2004;45(suppl 5):23-26.
6. Cho JH, Hong SB, Jung YJ, et al. Evaluation of algorithms for intracranial EEG (iEEG) source imaging of extended sources: feasibility of using iEEG source imaging for localizing epileptogenic zones in secondary generalized epilepsy. Brain Topogr. 2011;24(2):91-104.
7. Cukiert A, Cukiert CM, Burattini JA, et al. A prospective long-term study on the outcome after vagus nerve stimulation at maximally tolerated current intensity in a cohort of children with refractory secondary generalized epilepsy. Neuromodulation. 2013;16(6):551-556.
8. De Negri M, Cremonte M, Veneselli E, et al. Secondary generalized epilepsy in childhood: EEG patterns and correlation with responsiveness to benzodiazepines or ACTH (preliminary note). Brain Dev. 1988;10(6):375-381.
9. Egli M, Mothersill I, O'Kane M, O'Kane F. The axial spasm - the predominant type of drop seizure in patients with secondary generalized epilepsy. Epilepsia. 1985;26(5):401-415.
10. Kugoh T, Hosokawa K. A trial of discontinuation of barbiturates in patients with secondary generalized epilepsy. Jpn J Psychiatry Neurol. 1986; 40(4):655-662.
11. Gaillard WD, Chiron C, Cross JH, et al; ILAE, Committee for Neuroimaging, Subcommittee for Pediatrics. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia. 2009;50(9):2147-2153.
12. Hirtz D, Ashwal S, Berg A, et al. Practice parameter: evaluating a first nonfebrile seizure in children: report of the Quality Standards Subcommittee of the American Academy of Neurology, the Child Neurology Society, and the American Epilepsy Society. Neurology. 2000;55(5): 616-623.
13. Nunes VD, Sawyer L, Neilson J, Sarri G, Cross JH. Diagnosis and management of the epilepsies in adults and children: summary of updated NICE guidance. BMJ. 2012;344:e281.
14. Allen AS, Berkovic SF, Cossette P, et al; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501(7466):217-221.
15. Martin HC, Kim GE, Pagnamenta AT, et al; WGS500 Consortium. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet. 2014;23(12):3200-3211.
16. Veeramah KR, Johnstone L, Karafet TM, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013;54(7):1270-1281.
17. Helbig KL, Farwell Hagman KD, Shinde DN, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18(9):898-905.
18. Olson H, Shen Y, Avallone J, et al. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014;75(6):943-958.
19. Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012;53(8):1387-1398.
20. Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56 (5):707-716.
21. OtsukaM, Oguni H, Liang JS, et al. STXBP1 mutations cause not only Ohtahara syndrome but alsoWest syndrome - result of Japanese cohort study. Epilepsia. 2010;51(12):2449-2452.
22. Schwarz N, Hahn A, Bast T, et al. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol. 2016;263(2):334-343.
23. Weckhuysen S, Ivanovic V, Hendrickx R, et al; KCNQ2 Study Group. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697-1703.
24. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68(6):1327-1332.
25. Torkamani A, Bersell K, Jorge BS, et al. De novo KCNB1 mutations in epileptic encephalopathy. Ann Neurol. 2014;76(4):529-540.
26. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap) - a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377-381.
27. SAS Institute Inc. The SURVEYFREQ Procedure: SAS/STAT 9.3 User's Guide. Cary, NC: SAS Institute Inc; 2011.
28. SAS Institute Inc. The GLIMMIX Procedure: SAS/STAT 9.3 User's Guide. Cary, NC: SAS Institute, Inc; 2011.
29. Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. Epilepsia. 2015;56(8):1185-1197.
30. 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): 1629-1635.
31. Miller DT, Adam MP, Aradhya S, 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):749-764.
32. Ankala A, da Silva C, Gualandi F, et al. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol. 2015;77(2):206-214.
33. Consugar MB, Navarro-Gomez D, Place EM, et al. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015;17(4):253-261.
34. Gorokhova S, Cerino M, Mathieu Y, et al. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders. Appl Transl Genom. 2015;7:26-31.
35. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676-685.
36. Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015;5(5): a022392.
37. Almannai M, Marom R, Sutton VR. Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr Opin Pediatr. 2016;28(6):694-699.
38. Platzer K, Yuan H, Schütz H, et al. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects [published online April 4, 2017]. J Med Genet.
39. Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science. 2013;341(6141):1237758.
40. Jamuar SS, Lam AT, Kircher M, et al. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014;371(8):733-743.
41. Matthews PM, Edison P, Geraghty OC, Johnson MR. The emerging agenda of stratified medicine in neurology. Nat Rev Neurol. 2014;10(1):15-26.
42. Wirrell EC, Laux L, Donner E, et al. Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel. Pediatr Neurol. 2017; 68:18-34.e3.
43. Millichap JJ, Park KL, Tsuchida T, et al. KCNQ2 encephalopathy: features, mutational hot spots, and ezogabine treatment of 11 patients. Neurol Genet. 2016;2(5):e96.
44. Dilena R, Striano P, Gennaro E, et al. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. Brain Dev. 2017;39(4): 345-348.
45. Kutscher EJ, Joshi SM, Patel AD, Hafeez B, Grinspan ZM. Barriers to genetic testing for pediatric Medicaid beneficiaries with epilepsy [published online April 20, 2017]. Pediatr Neurol. 2017;S0887-8994(16)31047-5.
46. Trevathan E. So what? does the test lead to improved health outcomes? Neurology. 2011;77(17): 1586-1587.
47. Joshi C, Kolbe DL, Mansilla MA, Mason SO, Smith RJ, Campbell CA. Reducing the cost of the diagnostic odyssey in early onset epileptic encephalopathies. Biomed Res Int. 2016;2016: 6421039.
48. Ashwal S, Michelson D, Plawner L, Dobyns WB; Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Practice parameter: evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009;73(11): 887-897.
49. Grosse SD, Wordsworth S, Payne K. Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis. Genet Med. 2008;10(9):648-654.
50. Brunklaus A, Dorris L, Ellis R, et al. The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. Dev Med Child Neurol. 2013;55(2):154-161.
51. López-Pisón J, García-Jiménez MC, Monge-Galindo L, et al. Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010. Neurologia. 2014;29(7):402-407.
52. National Academy of Sciences. Comprehensive Cancer Care for Children and Their Families: Summary of a JointWorkshop by the Institute of Medicine and the American Cancer Society. Washington, DC: The National Academies Press; 2015.
53. NORD. National Organization for Rare Disorders. https://rarediseases.org/. Accessed September 4, 2016.
54. Berg AT. Epilepsy, cognition, and behavior: the clinical picture. Epilepsia. 2011;52(suppl 1):7-12.
55. O'Callaghan FJ, Lux AL, Darke K, et al. The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study. Epilepsia. 2011;52(7): 1359-1364.
56. Eisermann MM, DeLaRaillère A, Dellatolas G, et al. Infantile spasms in Down syndrome - effects of delayed anticonvulsive treatment. Epilepsy Res. 2003;55(1-2):21-27.