Epileptic spasms in tuberous sclerosis complex

Epilepsy Research

Volumn 106, Issue 1-2, 2013, Pages 200-210

  Hsieh, David T ^a,b   Jennesson, Melanie M ^a,c   Thiele, Elizabeth A ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b SAN ANTONIO MILITARY MEDICAL CENTER   (United States)

^c AMERICAN MEMORIAL HOSPITAL   (France)

Author keywords

Epileptic spasms; Infantile spasms; Tuberous sclerosis complex; Vigabatrin

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; ETIRACETAM; FELBAMATE; GABAPENTIN; HAMARTIN; HARKOSERIDE; LAMOTRIGINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; RUFINAMIDE; TIAGABINE; TOPIRAMATE; TUBERIN; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

ADOLESCENT; ADULT; ARTICLE; CHILD; DIET THERAPY; DRUG DOSE INCREASE; DRUG EFFICACY; DRUG TREATMENT FAILURE; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC SPASM; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GLYCEMIC INDEX; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; KETOGENIC DIET; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; REMISSION; RETROSPECTIVE STUDY; SCHOOL CHILD; TREATMENT OUTCOME; TREATMENT RESPONSE; TSC1 GENE; TSC2 GENE; TUBEROUS SCLEROSIS; VAGUS NERVE STIMULATION;

AED; ANTI-EPILEPTIC DRUG; EEG; ELECTROENCEPHALOGRAM; EPILEPTIC SPASMS; ES; ILAE; INFANTILE SPASMS; INTELLIGENCE QUOTIENT; INTERNATIONAL LEAGUE AGAINST EPILEPSY; IQ; IS; LGIT; LOW GLYCEMIC INDEX TREATMENT; MAGNETIC RESONANCE IMAGING; MRI; TSC; TUBEROUS SCLEROSIS COMPLEX; VGB; VIGABATRIN;

ADOLESCENT; ADULT; AGE OF ONSET; ANTICONVULSANTS; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; COGNITION; DATA COLLECTION; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; NEUROPSYCHOLOGICAL TESTS; PROGNOSIS; RETROSPECTIVE STUDIES; SPASM; SPASMS, INFANTILE; TREATMENT OUTCOME; TUBEROUS SCLEROSIS; YOUNG ADULT;

EID: 84883275101     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.05.003     Document Type: Article

References (38)

1. Aicardi J., Mumford J.P., Dumas C., Wood S. Vigabatrin as initial therapy for infantile spasms: a European retrospective survey. Epilepsia 1996, 37:638-642.
2. Au K.S., Williams A.T., Roach E.S., Batchelor L., Sparagana S.P., Delgado M.R., Wheless J.W., Baumgartner J.E., Roa B.B., Wilson C.M., Smith-Knuppel T.K., Cheung M.Y., Whittemore V.H., King T.M., Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet. Med. 2007, 9:88-100.
3. Auvin S., Lamblin M., Pandit F., Vallee L., Bouvet-Mourcia A. Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients. Epilepsia 2010, 51:1290-1296.
4. Bednarek N., Motte J., Soufflet C., Plouin P., Dulac O. Evidence of late-onset infantile spasms. Epilepsia 1998, 39:55-60.
5. Berg A.T., Berkovic S.F., Brodie M.J., Buchhalter J., Cross J.H., van Emde Boas W., Engel J., French J., Glauser T.A., Mathern G.W., Moshe S.L., Nordli D., Plouin P., Scheffer I.E. Revised terminology and concepts for organization of seizure and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010, 51:676-685.
6. Blume W.T., Luders H.O., Mizrahi E., Tassinari C., van Emde Boas W., Engel J. ILAE Commission Report, Glossary of descriptive terminology for ictal semiology: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:1212-1218.
7. Camfield P., Camfield C., Lortie A., Darwish H. Infantile spasms in remission may reemerge as intractable epileptic spasms. Epilepsia 2003, 44:1592-1595.
8. Cerullo A., Marini C., Carcangiu R., Baruzzi A., Tinuper P. Clinical and video-polygraphic features of epileptic spasms in adults with cortical migration disorder. Epileptic Disord. 1999, 1:27-33.
9. Chen L., Zhu M., Zhou H., Liang J. Clinical study of West syndrome with PS and late-onset epileptic spasms. Epilepsy Res. 2010, 89:82-88.
10. Chiron C., Dumas C., Jambaque I., Mumford J., Dulac O. Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis. Epilepsy Res. 1997, 26:389-395.
11. Chu-Shore C.J., Major P., Camposano S., Muzykewicz D., Thiele E.A. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010, 51:1236-1241.
12. Commission on Pediatric Epilepsy of the International League Against Epilepsy Workshop on infantile spasms. Epilepsia 1992, 33:195.
13. Coppola G., D'Aniello A., Messana T., Di Pasquale F., della Corte R., Pascotto A., Verrotti A. Low glycemic index diet in children and young adults with refractory epilepsy: first Italian experience. Seizure 2011, 20:526-528.
14. Dabora S.L., Jozwiak S., Franz D.N., Roberts P.S., Nieto A., Chung J., Choy Y.S., Reeve M.P., Thiele E., Egelhoff J.C., Kasprzyk-Obara J., Domanska-Pakiela D., Kwiatkowski D.J. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am. J. Hum. Genet. 2001, 68:64-80.
15. Donat J.F., Wright F.S. Seizures in series: similarities between seizures of the West and Lennox-Gastaut syndromes. Epilepsia 1991, 32:504-509.
16. d'Orsi G., Demaio V., Mauro G., Minervini M.G. Adult epileptic spasms: a clinical and video-polygraphic study. Epileptic Disord. 2007, 9:276-283.
17. Dulac O., Bast T., Bernadina B.D., Gaily E., Neville B. Infantile spasms: toward a selective diagnostic and therapeutic approach. Epilepsia 2010, 51:2218-2219.
18. Eiserman M.M., Ville D., Soufflet C., Plouin P., Chiron C., Dulac O., Kaminska A. Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood?. Epilepsia 2006, 47:1035-1042.
19. Elterman R.D., Shields W.D., Bittman R.M., Torri S.A., Sagar S.M., Collins S.D. Vigabatrin for the treatment of infantile spasms: final report of a randomized trial. J. Child Neurol. 2010, 25:1340-1347.
20. Fusco L., Vigevano F. Ictal clinical electroencephalographic findings of spasms in West syndrome. Epilepsia 1993, 34:671-678.
21. Fukushima K., Inoue Y., Fujiwara T., Yagi K. Long-term follow-up study of West syndrome associated with tuberous sclerosis. Brain Dev. 2001, 23:698-704.
22. Gobbi G., Bruno L., Pini A., Rossi P.G., Tassinari C.A. Periodic spasms: an unclassified type of epileptic seizure in childhood. Dev. Med. Child Neurol. 1987, 29:766-775.
23. Goldstein J., Slomski J. Epileptic spasms: a variety of etiologies and associated syndromes. J. Child Neurol. 2008, 23:407-414.
24. Hrachovy R.A., Frost J.D., Gospe S.M., Glaze D.G. Infantile spasms following near-drowning: a report of two cases. Epilepsia 2007, 28:45-48.
25. Hurst D.L., Rolan T.D. The use of felbamate to treat infantile spasms. J. Child Neurol. 1995, 10:134-136.
26. Kellaway P., Hrachovy R.A., Frost J.D., Zion T. Precise characterization and quantification of infantile spasms. Ann. Neurol. 1979, 6:214-218.
27. Kroll-Seger J., Kaminska A., Moutard M.L., de Saint-Martin A., Guet A., Dulac O., Chiron C. Severe relapse of epilepsy after vigabatrin withdrawal: for how long should we treat symptomatic infantile spasms?. Epilepsia 2007, 48:612.
28. Lux A.L., Osborne J.P. A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi Group. Epilepsia 2004, 45:1416-1428.
29. Moseley B.D., Nickels K., Wirrell E.C. Surgical outcomes for intractable epilepsy in children with epileptic spasms. J. Child Neurol. 2012, 27:713-720.
30. Muzykewicz D.A., Costello D.J., Halpern E.F., Thiele E.A. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. Epilepsia 2009, 50:290-296.
31. O'Callaghan F.J., Harris T., Joinson C., Bolton P., Noakes M., Presdee D., Renowden S., Shiell A., Martyn C.N., Osborne J.P. The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex. Arch. Dis. Child 2004, 89:530-533.
32. Ohtsuka Y., Kobayashi K., Ogino T., Oka E. Spasms in cluster in epilepsies other than typical West syndrome. Brain Dev. 2001, 23:473-481.
33. Olson H.E., Loddenkemper T., Vendrame M., Poduri A., Takeoka M., Bergin A.M., Libenson M.H., Duffy F.H., Rotenberg A., Coulter D., Bourgeois B.F., Kothare S.V. Rufinamide for the treatment of epileptic spasms. Epilepsy Behav. 2011, 20:344-348.
34. Pellock J.M., Hrachovy R., Shinnar S., Baram T.Z., Bettis D., Dlugos D.J., Gaillard W.D., Gibson P.A., Holmes G.L., Nordl D.R., O'Dell C., Shields W.D., Trevathan E., Wheless J.W. Infantile spasms: a US consensus report. Epilepsia 2010, 51:2175-2189.
35. Roach E.S., Sparagana S.P. Diagnosis of tuberous sclerosis complex. J. Child Neurol. 2004, 19:643-649.
36. Silva R.C., Montenegro M.A., Guerreiro C.A., Guerreiro M.M. Clobazam as add-on therapy in children with epileptic encephalopathy. Can. J. Neurol. Sci. 2006, 33:209-213.
37. Sotero de Menezes M.A., Rho J.M. Clinical and electrographic features of epileptic spasms persisting beyond the second year of life. Epilepsia 2002, 43:623-630.
38. Talwar D., Baldwin M.A., Hutzler R., Griesemer D.A. Epileptic spasms in older children: persistence beyond infancy. Epilepsia 1995, 36:151-155.