Epileptic Encephalopathies with Myoclonic Seizures in Infants and Children (Severe Myoclonic Epilepsy and Myoclonic-Astatic Epilepsy)

Journal of Clinical Neurophysiology

Volumn 20, Issue 6, 2003, Pages 449-461

  Guerrini, Renzo ^a,c   Aicardi, Jean ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSITY OF PISA   (Italy)

Author keywords

Benign myoclonic epilepsy; Epileptic encephalopathies with myoclonic seizures; Myoclonic astatic epilepsy; Myoclonus; Severe myoclonic epilepsy

Indexed keywords

ACETAZOLAMIDE; BARBITURIC ACID DERIVATIVE; BENZODIAZEPINE DERIVATIVE; BROMIDE; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; ETHOSUXIMIDE; ETIRACETAM; LAMOTRIGINE; MESUXIMIDE; PHENYTOIN; STEROID; STIRIPENTOL; SULTIAME; TOPIRAMATE; VACCINE; VALPROIC ACID; VIGABATRIN;

AGE; ANTICONVULSANT THERAPY; BEHAVIOR DISORDER; BRAIN DISEASE; CHILD; CHILDHOOD; CLINICAL TRIAL; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE EXACERBATION; DRUG EFFICACY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EVOKED RESPONSE; FEBRILE CONVULSION; FEVER; GENE; GENE MUTATION; HUMAN; INFANCY; INFANT; KETOGENIC DIET; LENNOX GASTAUT SYNDROME; MYOCLONIC ASTATIC EPILEPSY; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NEWBORN; ONSET AGE; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; PROGNOSIS; REMISSION; REVIEW; SCN1A GENE; SEIZURE; SYMPTOMATOLOGY; SYNDROME; TONIC CLONIC SEIZURE; TREATMENT OUTCOME;

AGE FACTORS; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY; EVOKED POTENTIALS; HUMANS; INFANT; INFANT, NEWBORN; SEIZURES; SYNDROME; TREATMENT OUTCOME;

EID: 1642539190     PISSN: 07360258     EISSN: None     Source Type: Journal    
DOI: 10.1097/00004691-200311000-00007     Document Type: Review

References (86)

1. Aicardi J. Course and prognosis of certain childhood epilepsies with predominantly myoclonic seizures. In: Wada JA, Penry JK, eds. Advances in epileptology: the Xth Epilepsy International Symposium. New York: Raven Press, 1980:159-63.
2. Aicardi J. Childhood epilepsies with brief myoclonic, atonic or tonic seizures. In: Laidlaw J, Richens A, eds. A textbook of epilepsy, Edinburgh: Churchill-Livingstone, 1982:88-96.
3. Aicardi J. Myoclonic epilepsies in childhood. Int Pediatr 1991;6:195-200.
4. Aicardi J, Chevrie JJ. Myoclonic epilepsies of childhood. Neuropédiatrie 1971;3:177-90.
5. Aicardi J, Levy-Gomez A. The myoclonic epilepsies of childhood. Clev Clin J Med 1989;56(suppl.1):S34-9.
6. Bednarek N, Motte J, Soufflet C, Plouin P, Dulac O. Evidence of late-onset infantile spasms. Epilepsia 1998;39:55-60.
7. Benlounis A, Nabbout R, Feingold J, Parmeggiani A, Guerrini R, Kaminska A, Dulac O. Genetic predisposition to severe myoclonic epilepsy in infancy. Epilepsia. 2001;42:204-9.
8. Bennett HS, Selman JE, Rapin I, Rose A. Nonconvulsive epileptiform activity appearing as ataxia. Am J Dis Child 1982;136:30-2.
9. Bonanni P, Parmeggiani L, Guerrini R. Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. Epilepsia 2002;43:609-15.
10. Casse-Perrot C, Wolf M, Dravet C. Neuropsychological aspects of severe myoclonic epilepsy in infancy. In: Jambaue I, Lassonde M, Dulac O. eds. Neuropsychology of childhood epilepsy. New York: Kluwer Academic-Plenum Publishers, 2001:131-40.
11. Chiron C. Prognosis of severe myoclonic epilepsy in infancy (Dravet syndrome). In: Jallon P, eds. Prognosis of epilepsy. Paris: John Libbey Eurotext, 2003:239-48.
12. Chiron C, Marchand MC, Tran A, Rey E, d'Athis P, Vincent J, Dulac O, Pons G. Stiripentol in severe myoclonic epilepsy in infancy: a randomized placebo-controlled, syndrome dedicated trial. STI-CLO study group. Lancet 2000;356:1638-42.
13. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-32.
14. Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-99.
15. Coppola G, Capovilla G, Montagnini A, Romeo A, Spano M, Tortorella G, Veggiotti P, Viri M, Pascotto A. Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res 2002;49:45-8.
16. Dalla Bernardina B, Capovilla G, Gattoni MB, Colamaria V, Bondavalli S, Bureau M. Epilepsie myoclonique grave de la première année. Re EEG Neurophysiol 1982;12:21-5.
17. Dalla Bernardina B, Capovilla G, Chiamenti C, Trevisan E, Colamaria V, Fontana E. Cryptogenic myoclonic epilepsies of infancy and early childhood: nosological and prognostic approach. In: Wolf P, Dam M, Janz D, Dreifuss FE, eds. Advances in epileptology. Vol 16. New York: Raven Press, 1987:175-9.
18. Doose H. Myoclonic astatic epilepsy of early childhood. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey, 1992;103-14.
19. Doose H, Baier WK. Genetic factors in epilepsies with primary generalized minor seizures. Neuropediatrics 1987;18(suppl 1):1-64.
20. Doose H, Völzke E. Petit mal status in early childhood and dementia. Neuropédiatrie 1989;10:10-4.
21. Doose H, Lunau H, Castiglione E, Waltz S. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 1998;29:229-38.
22. Dravet C, Guerrini R, Bureau M. Epileptic syndromes with drop seizures in children. In: Beaumanoir A, Andermann F, Avanzini G, Mira L, eds. Falls in epileptic and non-epileptic seizures during childhood. London: John Libbey, 1997:95-112.
23. Dravet C, Roger J, Bureau M, Dalla Bernardina B. Myoclonic epilepsies in childhood. In: Akimoto H, Kazamatsuri H, Seino M, Ward A, eds. Advances in epileptology: XIIIth Epilepsy International Symposium. New York: Raven Press, 1982:135-40.
24. Dravet C, Bureau M, Guerrini R, Giraud N, Roger J. Severe myoclonic epilepsy in infants. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey, 1992:75-88.
25. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy childhood and adolescence. 3rd ed. London/Paris: John Libbey, 2002a:81-103.
26. Dravet C, Bureau M. Benign myoclonic epilepsy in infancy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy childhood and adolescence. 3rd ed. London/Paris: John Libbey, 2002b:69-79.
27. Dulac O, Kaminska A. Use of lamotrigine in Lennox-Gastaut and related epilepsy syndromes. J Child Neurol 1997;12(suppl 1): S23-8.
28. Engel J Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:1-8
29. Ernst JP, Doose H, Baier W K. Bromides-effective in intractable epilepsy with generalized tonic-clonic seizures and onset in early childhood. Brain Dev 1988;10:385-8.
30. Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH. A novel SNC1A mutation associated with generalized epilepsy with febrile seizures plus and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68:866-73.
31. Fujiwara T, Nakamura H, Watanabe M, Yagi K, Seino M, Nakamura M. Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia 1990; 31:281-6.
32. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y. Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;126:531-46.
33. Gastaut H, Tassinari CA. Ictal discharges in different types of seizures. In: Gastaut H, Tassinari CA, eds. Epilepsies: handbook of electroencephalography and clinical neurophysiology. Amsterdam: Elsevier, 1975;13(part A):13A-45.
34. Giovanardi Rossi P, Gobbi G, Melideo G, Parmaggiani A, Tullini A, Santucci M. Myoclonic manifestations in the Lennox-Gastaut syndrome and other childhood epilepsies. In: Niedermeyer E, Degen R, eds. The Lennox-Gastaut syndrome. New York: Alan Liss, 1988:137-58.
35. Giovanardi Rossi P, Parmeggiani A, Posar A, Santi A, Santucci M. Benign myoclonic epilepsy: long-term follow-up of 11 new cases. Brain Dev 1997;19:473-9.
36. Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, Tassinari CA. Epileptic negative myoclonus. Neurology 1993;43: 1078-83.
37. Guerrini R, Dravet C, Genton P, Bureau M, Roger J, Rubboli G, Tassinari CA. Epileptic negative myoclonus [letter]. Neurology 1994a;44:989-90.
38. Guerrini R, Bonanni P, Rothwell J, Hallett M. Myoclonus and epilepsy. In: Guerrini R, Aicardi J, Andermann F, Hallett M, eds. Epilepsy and movement disorders. Cambridge: Cambridge University Press, 2002a:165-210.
39. Guerrini R, Parmeggiani L, Kaminska A, Dulac O. Myoclonic astatic epilepsy. In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy childhood and adolescence. 3rd ed. London/Paris: John Libbey, 2002b;105-12.
40. Guerrini R, Dravet CH, Gobbi G, Ricci S, Dulac O. Idiopathic generalized epilepsies with myoclonus in infancy and childhood. In: Malafosse A, Genton P, Hirsch E, Marescaux C, Broglin D, Bernasconi R, eds. Idiopathic generalized epilepsies: clinical, experimental, and genetic aspects. London: John Libbey, 1994b: 267-80.
41. Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 1998a;39:508-12.
42. Guerrini R, Belmonte A, Genton P. Antiepileptic drug-induced worsening of seizures in children. Epilepsia 1998b;39(suppl 3):2-10.
43. Guerrini R, Arzimanoglou A, Brouwer O. Rationale for treating epilepsy in children. Epileptic Disord 2002c;4(suppl 2):9-22
44. Guerrini R, Dravet CH. Severe epileptic encephatopathies of infancy. In: Engel J, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia/New York: Lippincott-Raven, 1997:2285-302.
45. Hallett, M. Myoclonus: relation to epilepsy. Epilepsia 1985;26(suppl 1):567-77.
46. Hoffmann-Riem M, Diener W, Benninger C, et al. Nonconvulsive status epilepticus: a possible cause of mental retardation in patients with Lennox-Gastaut syndrome. Neuropediatrics 2000;31: 169-74.
47. Hurst DL. Severe myoclonic epilepsy of infants. Pediatr Neurol 1987; 3:269-72.
48. Hurst DL. Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 1990;31:397-400.
49. Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatolas G, Dulac O. Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic-astatic epilepsy using multiple correspondence analysis. Epilepsy Res 1999;36:15-29.
50. Kanazawa O. Medically intractable generalized tonic-clonic or clonic seizures in infancy. J Epilepsy 1992;5:143-8.
51. Kanazawa O. Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy. Brain Dev 2001; 23:749-56.
52. Lin YP, Itomi K, Takada H, Kuboda T, Okumura T, Aso K, Negoro T, Watanabe K. Benign myoclonic epilepsy in infants: video-EEG features and long-term follow-up. Neuropediatrics 1998;29:268-71.
53. Lortie A, Chiron C, Mumford J, Dulac O. The potential for increasing seizure frequency, relapse, and appearance of new seizure types with vigabatrin. Neurology 1993;43(11 suppl 5):S24-7.
54. Meisler MH, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annu Rev Genet 2001;35:567-88.
55. Menkes J, Kinsbourne M. Workshop on neurologic complications of pertussis and pertussis vaccination. Neuropediatrics 1990;21:171-6.
56. Mikaeloff Y, de Saint-Martin A, Mancini J, Peudenier S, Pedespan JM, Vallee L, Motte J, Bourgeois M, Arzimanoglou A, Dulac O, Chiron C. Topiramate: efficacy and tolerability in children according to epilepsy syndromes. Epilepsy Res 2003;53:225-32.
57. Morimoto T, Hayakawa T, Sugie H, Awaya Y, Fukuyama Y. Epileptic seizures precipitated by constant light, movement in daily life, and hot water immersion. Epilepsia 1985;26:237-42.
58. Nabbout R, Gennaro E, Dalla Bernardina B, et al. Spectrum of SCNIA mutations in severe myoclonic epilepsy of infancy. Neurology 2003;60:1961-7.
59. Ogino T, Ohtsuka Y, Yamatogi Y, Oka E, Ohtahara S. Severe myoclonic epilepsy in infancy: clinicoelectroencephalographic and long-term follow-up studies. Brain Dev 1986;8:162.
60. Ogino T, Ohtsuka Y, Yamatogi Y, Oka E, Ohtahara S. The epileptic syndromes sharing common characteristics during early childhood with severe myoclonic epilepsy in infancy. Jpn J Psychiatr Neurol 1989;43:479-81.
61. Oguni H, Hayashi K, Oguni M, Mukahira A, Uehara T, Fukuyama Y, Umezu R, Izumi T, Hara M. Treatment of severe myoclonic epilepsy in infants with bromide and its borderline variant. Epilepsia 1994;35:1140-5.
62. Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M. Severe myoclonic epilepsy in infants: a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 2001;23:736-48.
63. Oguni H, Fukuyama Y, Imaizumi Y, Uehara T. Video analysis of drop seizures in myoclonic-astatic epilepsy of early childhood (Doose syndrome). Epilepsia 1993;33:805-13.
64. Oguni H, Tanaka T, Hayashi K, Funatsuka M, Sakauchi M, Shirakawa S, Osawa M. Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics 2002;33: 122-32.
65. Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic-astatic epilepsy of early childhood-clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain Dev 2001;23:757-64.
66. Ohki T, Watanabe K, Negoro T, Aso K, Haga Y, Kasai K, Kito M, Maeda N. Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure 1997;6:219-24.
67. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
68. Patel VM, Jankovic J. Myoclonus. Curr Neurol 1988;8:109-56.
69. Perez J, Chiron C, Musial C, Rey E, Blehaut H, d'Athis P, Vincent J, Dulac O. Stiripentol: efficacy and tolerability in children with epilepsy. Epilepsia 1999;40:1618-26.
70. Roger J, Payan H, Toga M, Soulayrol R. Manifestations cérébelleuses chez les épileptiques. Rev Neurol (Paris) 1960;103:410-4.
71. Scheffer I. Severe infantile epilepsies: molecular genetics challenge clinical classification. Brain 2003;126:513-4.
72. Singh R, Andermann E, Whitehouse WPA, Harvey AS, Keene DL, Seni MH, Crossland KM, Andermann F, Berkovic SF, Scheffer IE. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42:837-44.
73. Steinhoff BJ, Kruse R. Bromide treatment of pharmaco-resistant epilepsies with generalized tonic-clonic seizures: a clinical study. Brain Dev 1992;14:144-9.
74. Sugama M, Oguni H, Fukuyama Y. Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy. Jpn J Psychiatr Neurol 1987;41:463-5.
75. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K. Frequent mutation of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002; 58:1122-4.
76. Takahashi Y, Shigematsu H, Fujiwara T, Yagi K, Seino M. Self-induced photogenic seizures in a child with severe myoclonic epilepsy in infancy: optical investigations and treatments. Epilepsia 1995;36:728-32.
77. Takahashi Y, Fujiwara T, Yagi K, Seino M. Photosensitive epilepsies and pathophysiologic mechanisms of the photoparoxysmal response. Neurology 1999;53:926-32.
78. Tanaka J, Mimaki T, Tagawa T, et al. Efficacy of bromide for intractable epilepsy of childhood. J Jpn Epil Soc 1990;8:105-9.
79. Tassinari CA, Bureau M, Thomas P. Epilepsy with myoclonic absences. In: Roger J, Dravet C, Bureau M, Dreifuss FE, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey, 1992:151-60.
80. Tassinari CA, Michelucci R, Shigematsu H, Seino M. Atonic and falling seizures. In: Engel J Jr, Pedley TA, eds. Epilepsy: A comprehensive textbook. Philadelphia: Lippincott-Raven, 1998: 605-61.
81. Tennison MB, Greenwood RS, Miles MV. Methosuximide for intractable childhood seizures. Pediatrics 1991;87:186-9.
82. Veggiotti P, Cardinale E, Montalenti A, Gatti A, Lanzi G. Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epil Dis 2001;3: 29-32.
83. Wallace SJ. Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide. Epilepsy Res 1998;29:147-54.
84. Watanabe M, Fujiwara T, Terauchi N, Yagi K, Seino M, Higashi T. Intractable grand mal epilepsy developed in the first year of life. In: Manelis J, Bental E, Loeber JN, Dreifuss F, eds. Advances in epileptology: XVII Epileptology International Symposium. New York: Raven Press, 1989:327-39.
85. Woody RC. Bromide therapy for pediatric seizure disorder intractable to other antiepileptic drugs. J Child Neurol 1990;5:65-7.
86. Yakoub M, Dulac O, Jambaqué I, Chiron C, Plouin P. Early diagnosis of severe motor epilepsy in infancy. Brain Dev 1992;14:299-303.