Dravet syndrome: Inroads into understanding epileptic encephalopathies

Journal of Pediatrics

Volumn 158, Issue 3, 2011, Pages 354-359

  Morse, Richard P ^a  

^a CHILDREN S HOSPITAL AT DARTMOUTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; CARBAMAZEPINE; CLOBAZAM; DIPHTHERIA PERTUSSIS TETANUS VACCINE; ETIRACETAM; SODIUM CHANNEL; STIRIPENTOL; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

AGE; ARTICLE; BRAIN DISEASE; CHILD DEVELOPMENT; CHILDHOOD DISEASE; COGNITION; ELECTROENCEPHALOGRAPHY; FEBRILE CONVULSION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HEREDITY; HUMAN; KETOGENIC DIET; LENNOX GASTAUT SYNDROME; MOLECULAR GENETICS; MORTALITY; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; VAGUS NERVE STIMULATION;

CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSIES, MYOCLONIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; NERVE TISSUE PROTEINS; SODIUM CHANNELS; SYNDROME;

EID: 79951576255     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2010.10.035     Document Type: Article

References (64)

1. C. Dravet, M. Bureau, H. Oguni, Y. Fukuyama, and O. Cokar Severe myoclonic epilepsy in infancy (Dravet syndrome) J. Roger, M. Bureau, C. Dravet, P. Genton, C.A. Tassinari, P. Wolf, Epileptic Syndromes in Infancy, Childhood and Adolescence 3rd ed 2002 John Libbey Eastleigh, UK 81 103
2. C. Lossin A catalog of SCN1A variants Brain Devel 31 2009 114 130
3. L. Claes, L. Deprez, A. Suls, J. Baets, K. Smets, and T. VanDyck The SCN1A variant database: a novel research and diagnostic tool Hum Mutat 30 2009 E904 E920
4. M.H. Meisler, J.E. OBrien, and L.M. Sharkey Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects J Physiol 588 Pt 11 2010 1841 1848
5. C.E. Stafstrom Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology, with a focus on SCN1A mutations J Child Neurol 24 2009 15-23S
6. K. Schlachter, U. Gruber-Sedlmayr, E. Stogmann, M. Lausecker, C. Hotzy, and J. Balzar A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures Neurology 72 2009 974 978
7. S.F. Berkovic, L. Harkin, J.M. McMahon, J.T. Pelekanos, S.M. Zuberi, and E.C. Wirrell Denovo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study Lancet Neurol 5 2006 488 492
8. J.C. Oakley, F. Kalume, F.H. Yu, T. Scheuer, and W.A. Catterall Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy Proc Natl Acad Sci USA 106 2009 3994 3999
9. C. Dravet Les epilepsies graves de lenfant Vie Med 8 1978 543 548
10. M. Wolff, C. Casse-Perrot, and C. Dravet Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings Epilepsia 47 Suppl 2 2006 45 48 (Pubitemid 44684620)
11. H. Oguni, K. Hayashi, Y. Awaya, Y. Fukuyama, and M. Osawa Severe myoclonic epilepsy in infants: a review based on the Tokyo Womens Medical University series of 84 cases Brain Dev 23 2001 736 748 (Pubitemid 32999159)
12. D.L. Hurst Epidemiology of severe myoclonic epilepsy of infancy Epilepsia 31 1990 397 400 (Pubitemid 20226666)
13. F.E. Jansen, L.G. Sadleir, L.A. Harkin, L. Vadlamudi, J.M. McMahon, and J.C. Mulley Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults Neurology 67 2006 2224 2226 (Pubitemid 46035482)
14. H. Oguni, K. Hayashi, M. Osawa, Y. Awaya, Y. Fukuyama, and G. Fukuma Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort Adv Neurol 95 2005 103 117
15. I.E. Scheffer, and S.F. Berkovic Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes Brain 120 1997 479 490 (Pubitemid 27153640)
16. R.H. Wallace, D.W. Wang, R. Singh, I.E. Scheffer, A.L. George, and H.A. Phillips Febrile seizures and generalized epilepsy associated with a mutation in the Na+ channel β1 subunit gene SCN1B Nat Genet 19 1998 366 370 (Pubitemid 28357909)
17. A. Escayg, B.T. MacDonald, M.H. Meisler, S. Baulac, G. Huberfeld, and I. An-Gourfinkel Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ Nat Genet 24 2000 343 345 (Pubitemid 30187430)
18. S. Baulac, G. Huberfeld, I. An-Gourfinkel, G. Mitropoulou, A. Beranger, and J.F. Prudhomme First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene Nat Genet 28 2001 46 48 (Pubitemid 32405815)
19. L. Claes, J. Del-Favero, B. Ceulemans, L. Lagae, C. Van Broeckhoven, and P. DeJonghe De novo mutations in the sodium channel gene SCN1A cause severe myoclonic epilepsy of infancy Am J Hum Genet 68 2001 1327 1332 (Pubitemid 32510608)
20. J.C. Mulley, I.E. Scheffer, S. Petrou, L.M. Dibbens, S.F. Berkovic, and L.A. Harkin SCN1A mutations and epilepsy Hum Mutat 25 2005 535 542 (Pubitemid 40780987)
21. L. Claes, B. Ceulemans, D. Audenaert, K. Smets, A. Lofgren, and J. Del-Favero De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy Hum Mutat 21 2003 615 621 (Pubitemid 36667351)
22. A. Gambardella, and C. Marini Clinical spectrum of SCN1A mutations Epilepsia 50 2009 20 23
23. B.P. Ceulemans, L.R. Claes, and L.G. Lagae Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy Pediatr Neurol 30 2004 236 243 (Pubitemid 38490433)
24. G. Fukuma, H. Oguni, Y. Shirasaka, K. Watanabe, T. Miyajima, and S. Yasumoto Mutations of neuronal voltage-gated Na channel 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) Epilepsia 45 2004 140 148 (Pubitemid 38174120)
25. I. Ohmori, K.M. Kahlig, T.H. Rhodes, D.W. Wang, and A.L. George Jr. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy Epilepsia 47 2006 1636 1642 (Pubitemid 44556397)
26. R. Nabbout, E. Gennaro, B. Dalla Bernardina, O. Dulac, F. Madia, and E. Bertini Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology 60 2003 1961 1967 (Pubitemid 36736013)
27. L.A. Harkin, J.M. McMahon, X. Iona, L. Dibbens, J.T. Pelekanos, and S.M. Zuberi The spectrum of SCN1A-related infantile epileptic encephalopathies Brain 130 2007 843 852 (Pubitemid 46410748)
28. A. Arzimanoglou Dravet syndrome: from electroclinical characteristics to molecular biology Epilepsia 50 Suppl 8 2009 3 9
29. V. Haufe, C. Chamberland, and R. Dumaine The promiscuous nature of the cardiac sodium current J Mol Cell Cardiol 42 2007 469 477 (Pubitemid 46349127)
30. Scheffer I. GEFS+, Dravet, and EFMR: syndromes, gene testing and interpretation. Oralresentation at the American Epilepsy Society Symposium, Boston, MA, December 2009.
31. W.A. Catterall, S. Dib-Hajj, M.H. Meisler, and D. Pietrobon Inherited neuronal ion channelopathies: new windows on complex neurological diseases J Neuroscience 28 2008 11768 11777
32. M.S. Malo, B.J. Blanchard, J.M. Andresen, K. Srivastava, X.N. Chen, and X. Li Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24 Cytogenet Cell Genet 67 1994 178 186 (Pubitemid 24257075)
33. S. Baulac, I. Gourfinkel-An, F. Picard, M. Rosenberg-Bourgin, J.F. Prudhomme, and M. Baulac A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33 Am J Hum Genet 65 1999 1078 1085 (Pubitemid 30462965)
34. B. Moulard, M. Guipponi, D. Chaigne, D. Mouthon, C. Buresi, and A. Malafosse Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33 Am J Hum Genet 65 1999 1396 1400 (Pubitemid 30460390)
35. J.W. Wang, H. Kurahashi, A. Ishii, T. Kojima, M. Ohfu, and T. Inoue Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy Epilepsia 49 2008 1528 1534
36. F. Madia, P. Striano, E. Gennaro, M. Malacarne, R. Paravidino, and R. Biancheri Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy Neurology 67 2006 1230 1235 (Pubitemid 44563833)
37. C. Depienne, A. Arzimanoglou, O. Trouillard, E. Fedirko, S. Baulac, and C. Saint-Martin Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy Hum Mutat 27 2006 389 399
38. N.A. Singh, C. Pappas, E.J. Dahle, L.R. Claes, T.H. Pruess, and P. DeJonghe A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome PLoS Genet 5 2009 e1000649
39. G.A. Patino, L.R. Claes, L.F. Lopez-Santiago, E.A. Slat, R.S. Dondeti, and C. Chen A functional null mutation of SCN1B in a patient with Dravet syndrome J Neurosci 29 2009 10764 10778
40. X. Shi, S. Yasumoto, E. Nakagawa, T. Fukasawa, S. Uchiya, and S. Hirose Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome Brain Devel 31 2009 758 762
41. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, and W. Carpentier Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients J Med Genet 46 2009 183 191
42. K. Kanai, S. Hirose, H. Oguni, G. Fukuma, Y. Shirasaka, and T. Miyajima Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity Neurology 63 2004 329 334 (Pubitemid 38971135)
43. J. Engel Jr. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology Epilepsia 42 2001 1 8 796-803
44. F.H. Yu, M. Mantegazza, R.E. Westenbroek, C.A. Robbins, F. Kalume, and K.A. Burton Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy Nat Neurosci 9 2006 1142 1149 Erratum 2007;10:134 (Pubitemid 44306307)
45. I. Ogiwara, H. Miyamoto, N. Morita, N. Atapuor, E. Mazaki, and I. Inoue NaV1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation J Neurosci 27 2007 5903 5914 (Pubitemid 46849766)
46. F. Kalume, F.H. Yu, R.E. Westenbroek, T. Scheuer, and W.A. Catterall Reduced sodium current in Purkinje in neurons from NaV1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy infancy J Neurosci 27 2007 11065 11074 (Pubitemid 47574172)
47. M.M. Trudeau, J.C. Dalton, J.W. Day, L.P. Ranum, and M.H. Meisler Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation J Med Genet 43 2006 527 530 (Pubitemid 43927329)
48. R. Guerrini, and J. Aicardi Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy) (review) J Clin Neurophys 20 2003 449 461 (Pubitemid 38133972)
49. R. Nabbout, and O. Dulac Epileptic encephalopathies: a brief overview (review) J Clin Neurophys 20 2003 393 397 (Pubitemid 38133967)
50. D.L. Hurst Severe myoclonic epilepsy of infants Pediatr Neurol 3 1987 269 272
51. D.L. Hurst Expanded therapeutic range of valproate Pediatr Neurol 3 1987 342 344 (Pubitemid 18010854)
52. A. Labate, E. Colosimo, A. Gambardella, U. Leggio, R. Ambrosio, and A. Quattrone Levetiracetam in patients with generalised epilepsy and myoclonic seizures: an open-label study Seizure 15 2006 214 218
53. P. Striano, A. Coppola, M. Pezzella, C. Ciampa, N. Specchio, and F. Ragona An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy Neurology 69 2007 250 254 (Pubitemid 47205686)
54. S.J. Wallace Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide Epilepsy Res 29 1998 147 154 (Pubitemid 28053883)
55. M. Nieto-Barrera, R. Candau, M. Nieto-Jimenez, A. Correa, and L.R. delPortal Topiramate in the treatment of severe myoclonic epilepsy in infancy Seizure 9 2000 590 594 (Pubitemid 32094376)
56. J. Krll-Seger, P. Portilla, O. Dulac, and C. Chiron Topiramate in the treatment of highly refractory patients with Dravet syndrome Neuropediatrics 37 2006 325 329 (Pubitemid 46480526)
57. C. Chiron, M.C. Marchand, A. Tran, E. Rey, P. dAthis, and J. Vincent Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO Study Group Lancet 356 2000 1638 1642
58. B. Kassai, C. Chiron, S. Augier, M. Cucherat, E. Rey, and F. Gueyffier Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data Epilepsia 49 2008 343 348 (Pubitemid 351172001)
59. R. Guerrini, C. Dravet, P. Genton, A. Belmonte, A. Kaminska, and O. Dulac Lamotrigine and seizure aggravation in children Epilepsia 39 1998 508 512
60. A. Arzimanoglou Vigabatrin and complex partial status Seizure 3 1994 79 80 (Pubitemid 24184297)
61. R.H. Caraballo, R.O. Cersósimo, D. Sakr, A. Cresta, N. Escobal, and N. Fejerman Ketogenic diet in patients with Dravet syndrome Epilepsia 46 2005 1539 1544
62. A.L. Hartman Does the effectiveness of the ketogenic diet in different epilepsies yield insights into its mechanisms? Epilepsia 49 Suppl 8 2008 53 56
63. A. McIntosh, J. McMahon, L. Dibbens, X. Iona, J. Mulley, and I. Scheffer Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study Lancet Neurol 9 2010 592 598
64. S. Petrovski, I.E. Scheffer, S.M. Sisodiya, T.J. OBrien, and S.F. Berkovic Lack of replication of association between SCN1A SNP and febrile seizures Neurology 73 2009 1928 1930