Dravet syndrome: From electroclinical characteristics to molecular biology

Epilepsia

Volumn 50, Issue SUPPL. 8, 2009, Pages 3-9

  Arzimanoglou, Alexis ^a,b  

^a Institute for Children and Adolescents with Epilepsy IDEE   (France)

^b University Hospitals of Lyon   (France)

Author keywords

Fever; Ion channel; SCN1A; Severe myoclonic epilepsy of infancy

Indexed keywords

ANTICONVULSIVE AGENT; BROMIDE; CARBAMAZEPINE; CLOBAZAM; CORTICOTROPIN; ETIRACETAM; IMMUNOGLOBULIN; LAMOTRIGINE; SODIUM CHANNEL; SODIUM CHANNEL SUBUNIT 1ALPHA; STEROID; STIRIPENTOL; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; ZONISAMIDE;

ADD ON THERAPY; CLONIC SEIZURE; COUNSELING; DISEASE COURSE; DRAVET SYNDROME; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FOCAL EPILEPSY; GENERALIZED EPILEPSY; GENETIC IDENTIFICATION; HUMAN; INFANCY; KETOGENIC DIET; MOLECULAR BIOLOGY; MUTATION; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; REVIEW; SENSITIVITY ANALYSIS; TONIC CLONIC SEIZURE; VAGUS NERVE STIMULATION;

ADULT; AGE OF ONSET; ANTICONVULSANTS; DISEASE PROGRESSION; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEVER; HUMANS; INFANT; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; SODIUM CHANNELS; SYNDROME;

EID: 68949198871     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2009.02228.x     Document Type: Review

References (81)

1. Aicardi J, Gomes AL 1988). The Lennox-Gastaut syndrome: clinical and electroencephalographic features. In Niedermeyer E, Degen D (Eds) The Lennox-Gastaut syndrome. Alan R. Liss, New York, pp. 25 46.
2. Aicardi J 1991) Myoclonic epilepsies in childhood. Int Pediatr 6 : 195 200.
3. Aicardi J 1994) Epilepsy in children. 2nd ed. Raven Press, New York.
4. Aicardi J 2009). Diseases of the nervous system in childhood, 3rd ed. Mac Keith Press, London.
5. Arzimanoglou A 1994) Vigabatrin and complex partial status. Seizure 3 : 79 80.
6. Arzimanoglou A, Guerrini R, Aicardi J 2004) Aicardi's Epilepsy in children, LWW, Philadelphia, pp. 51 57.
7. Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht M, Genton P, Guerrini R, Kluger G, Pellock JM, Perucca E, Wheless JW 2009) Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol 8 : 82 93.
8. Caraballo RH, Cersósimo RO, Sakr D, Cresta A, Escobal N, Fejerman N 2005) Ketogenic diet in patients with Dravet syndrome. Epilepsia 46 : 1539 1544.
9. Chiron C, Marchand MC, Tran A, Rey E, d'Athis P, Vincent J, Dulac O, Pons G 2000) Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Lancet 356 : 1638 1642.
10. Chiron C, Véra P, Hollo A, Kaminska A, Cieuta C, Ville D, Stiévenart JL, Gardin I, Plouin P, Fohlen M, Delalande O, Jalin C, Dulac O. (2001) Ictal SPECT in temporal lobe seizures in children. In Avanzini G, Beaumanoir A, Mira L (Eds) Limbic seizures in children. John Libbey, Paris, pp. 217 223.
11. Chiron C 2007) Stiripentol. Neurotherapeutics 4 : 123 125.
12. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P 2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68 : 1327 1332.
13. Coppola G, Capovilla G, Montagnini A, Romeo A, Spanò M, Tortorella G, Veggiotti P, Viri M, Pascotto A 2002) Topiramate as add-on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res 49 : 45 48.
14. Dalla Bernardina B, Capovilla G, Gattoni MB et al. (1982) Epilepsie myoclonique grave de la première année. Rev Electroencephalogr Neurophysiol Clin 12 : 21 25.
15. Dalla Bernardina B, Capovilla G, Chiamenti C et al. (1987) 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. Raven Press, New York, pp. 175 179.
16. Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E 2006) Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 27 : 389.
17. Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E 2009) Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 46 : 183 191.
18. Doose H, Lunau H, Castiglione E, Waltz S 1998) Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 29 : 229 238.
19. Dravet C 1978) Les epilepsies graves de l'enfant. Vie Med 8 : 543 548.
20. Dravet C, Roger J, Bureau M, Dalla Bernardina B 1982) Myoclonic epilepsies in childhood. In Akimoto H, Kazamatsuri H, Seino M et al. (Eds) Advances in epileptology, XIIIth Epilepsy International Symposium. Raven Press, New York. pp. 135 140.
21. Dravet C, Bureau M, Guerrini R et al. (1992) Severe myoclonic epilepsy in infants. In Roger J, Bureau M, Dravet C et al. (Eds) Epileptic syndromes in infancy, childhood and adolescence, 2nd ed. John Libbey, London, pp. 75 88.
22. Dravet C, Bureau M, Oguni H et al. (2002) Severe myoclonic epilepsy in infancy (Dravet syndrome). In Roger J, Bureau M, Dravet C et al. (Eds) Epileptic syndromes in infancy, childhood and adolescence, 3rd ed. John Libbey, London, pp. 81 103.
23. Dravet C, Bureau M 2004) Dravet syndrome (severe myoclonic epilepsy in infancy). In Gilman S (Ed), Medlink neurology. Arbor Publishing Corp., San Diego SA. Available at www.medlink.com.
24. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O 2005) Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 95 : 71 102.
25. Engel J Jr. 2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. International League Against Epilepsy (ILAE). Epilepsia 42 : 796 803.
26. Ernst JP, Doose H, Baier WK 1988) Bromides were effective in intractable epilepsy with generalized tonic-clonic seizures and onset in early childhood. Brain Dev 10 : 385 388.
27. Fejerman N, Caraballo R, Cersosimo R 2005) Ketogenic diet in patients with Dravet syndrome and myoclonic epilepsies in infancy and early childhood. Adv Neurol 95 : 299 305.
28. Fujiwara T, Nakamura H, Watanabe M, Yagi K, Seino M, Nakamura H 1990) Clinicoelectrographic concordance between monozygotic twins with severe myoclonic epilepsy in infancy. Epilepsia 31 : 281 286.
29. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y 2003) Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 126 : 531 546.
30. Fujiwara T 2006) Clinical spectrum of mutations in SCN1A gene: severe myoclonic epilepsy in infancy and related epilepsies. Epilepsy Res 70 (suppl 1 S223 S230.
31. Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, Ohfu M, Inoue T, Watanachai A, Kira R, Matsuo M, Muranaka H, Sofue F, Zhang B, Kaneko S, Mitsudome A, Hirose S 2004) 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 45 : 140 148.
32. Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F 2006) Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 341 : 489 493.
33. Genton P, McMenamin J 1998) Summary. Aggravation of seizures by antiepileptic drugs: what to do in clinical practice. Epilepsia 39 : S26 S29.
34. Giovanardi Rossi P, Santucci M, Gobbi G et al. (1991) Long-term follow-up of severe myoclonic epilepsy in infancy. In Fukuyama Y, Kamoshita S, Ohtsuka C et al. (Eds) Modern perspectives of child neurology. Japanese Society of Child Neurology, Tokyo, pp. 205 213.
35. Grosso S, Franzoni E, Iannetti P, Incorpora G, Cardinali C, Toldo I, Verrotti A, Caterina Moscano F, Lo Faro V, Mazzone L, Zamponi N, Boniver C, Spalice A, Parisi P, Morgese G, Balestri P 2005) Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study. J Child Neurol 20 : 893 897.
36. Guerrini R, Dravet C, Genton P, Belmonte A, Kaminska A, Dulac O 1998) Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia 5 : 508 512.
37. Guerrini R, Aicardi J 2003) Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J Clin Neurophysiol 20 : 449 461.
38. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S 2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70 : 530 536.
39. Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A 2007) Infantile Epileptic Encephalopathy Referral Consortium, Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130 (Pt 3 843 852.
40. Hurst DL 1987a) Severe myoclonic epilepsy of infants. Pediatr Neurol 3 : 269 272.
41. Hurst DL 1987b) Expanded therapeutic range of valproate. Pediatr Neurol 3 : 342 344.
42. Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF 2006) Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology 67 : 2224 2226.
43. Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S 2004) Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology 63 : 329 334.
44. Kanazawa O 1992) Medically intractable generalized tonic-clonic or clonic seizures in infancy. J Epilepsy 5 : 143 148.
45. Kanazawa O 2001) Refractory grand mal seizures with onset during infancy including sever myoclonic epilepsy in infancy. Brain Dev 23 : 749 756.
46. Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G 2008) Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data. Epilepsia 49 : 343 348.
47. Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M 2005) A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures. Brain Dev 27 : 424 430.
48. Korff C, Laux L, Kelley K, Goldstein J, Koh S, Nordli D Jr. 2007) Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. J Child Neurol 22 : 185 194.
49. Kröll-Seger J, Portilla P, Dulac O, Chiron C 2006) Topiramate in the treatment of highly refractory patients with Dravet syndrome. Neuropediatrics 37 : 325 329.
50. Labate A, Colosimo E, Gambardella A, Leggio U, Ambrosio R, Quattrone A 2006) Levetiracetam in patients with generalised epilepsy and myoclonic seizures: an open label study. Seizure 15 : 214 218.
51. Lerche H, Weber YG, Baier H, Jurkat-Rott K, Kraus de Camargo O, Ludolph AC, Bode H, Lehmann-Horn F 2001) Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family. Neurology 57 : 1191 1198.
52. Marini C, Mei D, Helen Cross J, Guerrini R 2006) Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 47 : 1737 1740.
53. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R 2007) Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Epilepsia 48 : 1678 1685.
54. Morimoto M, Mazaki E, Nishimura A, Chiyonobu T, Sawai Y, Murakami A, Nakamura K, Inoue I, Ogiwara I, Sugimoto T, Yamakawa K 2006) SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 47 : 1732 1736.
55. Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA 2005) SCN1A mutations and epilepsy. Hum Mutat 25 : 535 542.
56. Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F 2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60 : 1961 1967.
57. Nabbout R, Desguerre I, Sabbagh S, Depienne C, Plouin P, Dulac O, Chiron C 2008) An unexpected EEG course in Dravet syndrome. Epilepsy Res 81 : 90 95.
58. Nieto-Barrera M, Candau R, Nieto-Jimenez M, Correa A, del Portal LR 2000) Topiramate in the treatment of severe myoclonic epilepsy in infancy. Seizure 9 : 590 594.
59. Ogino T, Ohtsuka Y, Yamatogi Y et al. (1986) Severe myoclonic epilepsy in infancy: clinicoelectroencephalographic and long-term follow-up studies. Brain Dev 8 : 162 165.
60. Ogino T, Ohtsuka Y, Yamatogi Y, Oka E, Ohtahara S 1989) The epileptic syndromes sharing common characteristics during early childhood with severe myoclonic epilepsy in infancy. Jpn J Psychiatry Neurol 43 : 479 481.
61. Oguni H, Hayashi K, Oguni M, Mukahira A, Uehara T, Fukuyama Y, Umezu R, Izumi T, Hara M 1994) Treatment of severe myoclonic epilepsy in infants with bromide and its borderline variant. Epilepsia 35 : 1140 1145.
62. Oguni H, Hayashi K, Awaya Y, Fukuyama Y, Osawa M 2001) Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases. Brain Dev 23 : 736 748.
63. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K 2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295 : 17 23.
64. Perez J, Chiron C, Musial C, Rey E, Blehaut H, d'Athis P, Vincent J, Dulac O 1999) Stiripentol: efficacy and tolerability in children with epilepsy. Epilepsia 40 : 1618 1626.
65. Sarisjulis N, Gamboni B, Plouin P, Kaminska A, Dulac O 2000) Diagnosing idiopathic/cryptogenic epilepsy syndromes in infancy. Arch Dis Child 82 : 226 230.
66. Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF 2005) Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 46 (suppl 10 41 47.
67. Steinhoff BJ, Kruse R 1992) Bromide treatment of pharmaco-resistant epilepsies with generalized tonic-clonic seizures: a clinical study. Brain Dev 14 : 144 149.
68. Striano P, Coppola A, Pezzella M, Ciampa C, Specchio N, Ragona F, Mancardi MM, Gennaro E, Beccaria F, Capovilla G, Rasmini P, Besana D, Coppola GG, Elia M, Granata T, Vecchi M, Vigevano F, Viri M, Gaggero R, Striano S, Zara F 2007) An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology 69 : 250 254.
69. Sugama M, Oguni H, Fukuyama Y 1987) Clinical and electroencephalographic study of severe myoclonic epilepsy in infancy. Jpn J Psychiatr Neurol 41 : 463 465.
70. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K 2002) Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58 : 1122 1124.
71. Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K 2008) Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) - a nationwide questionnaire survey in Japan. Brain Dev 30 : 629 635.
72. Tanaka J, Mimaki T, Tagawa T, Ono J, Itagaki Y, Onodera T, Imai K, Okada S 1990) Efficacy of bromide for intractable epilepsy of childhood. J Jpn Epileptic Soc 8 : 105 109.
73. Veggiotti P, Cardinali S, Montalenti E, Gatti A, Lanzi G 2001) Generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy: a case report of two Italian families. Epileptic Disord 3 : 29 32.
74. Wallace SJ 1998) Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide. Epilepsy Res 29 : 147 154.
75. Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE 2003) Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 61 : 765 769.
76. Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S 2008) Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 49 : 1528 1534.
77. Watanabe M, Fujiwara T, Terauchi N et al. (1989a) Intractable grand mal epilepsy developed in the first year of life. In Manelis J, Bental E, Loeber J, Dreifuss FE Eds) Advances in epileptology, XVII Epilepsy International Symposium. Raven Press, New York, pp. 327 339.
78. Watanabe M, Fujiwara T, Yagi K et al. (1989b) Intractable childhood epilepsy with generalized tonic-clonic seizures. Journal of the Japanese Epileptic Society 7 : 96 105.
79. Wolff M, Cassé-Perrot C, Dravet C 2006) Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings. Epilepsia 47 (suppl 2 45 48.
80. Woody RC 1990) Bromide therapy for pediatric seizure disorder intractable to other antiepileptic drugs. J Child Neurol 5 : 65 67.
81. Yakoub M, Dulac O, Jambaqué I, Chiron C, Plouin P 1992) Early diagnosis of severe motor epilepsy in infancy. Brain Dev 14 : 299 303.