Electroencephalographic features of patients with SCN1A-positive dravet syndrome

Brain and Development

Volumn 37, Issue 6, 2015, Pages 599-611

  Lee, Hsiu Fen ^a,c   Chi, Ching Shiang ^b,c   Tsai, Chi Ren ^a,d   Chen, Chin Hsuan ^a   Wang, Chi Chao ^b  

^a TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^b TUNGS' TAICHUNG METROHARBOR HOSPITAL   (Taiwan)

^c CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL CHUNG HSING UNIVERSITY   (Taiwan)

Author keywords

Dravet syndrome; EEG; SCN1A

Indexed keywords

SODIUM CHANNEL NAV1.1; SCN1A PROTEIN, HUMAN;

ARTICLE; AUTOMATISM; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPH; EPILEPTIC DISCHARGE; FEMALE; FOLLOW UP; GENE ONTOLOGY; HUMAN; INFANT; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; PATIENT CARE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SINGLE NUCLEOTIDE POLYMORPHISM; SPIKE WAVE; ADOLESCENT; ADULT; BRAIN CORTEX; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; GENETICS; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; HUMANS; MALE; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; YOUNG ADULT;

EID: 84928272450     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.10.003     Document Type: Article

References (32)

1. Dravet C. Les epilepsies graves de lénfant. Vie Med 1978, 8:543-548.
2. Commission on Classification and Terminology of the International League against epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989, 30:389-399.
3. Engel J., International League Against Epilepsy (ILAE) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. Epilepsia 2001, 42:796-803.
4. Ragona F., Granata T., Bernardina B.D., Offredi F., Darra F., Battaglia D., et al. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia 2011, 52:386-392.
5. Ragona F. Cognitive development in children with Dravet syndrome. Epilepsia 2011, 52(Suppl. 2):39-43.
6. Catarino C.B., Liu J.Y.W., Liagkouras I., Gibbons V.S., Labrum R.W., Ellis R., et al. Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathy. Brain 2011, 134:2982-3010.
7. Scheffer I.E., Berkovic S.F. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997, 120:479-490.
8. Singh R., Scheffer I.E., Crossland K., Berkovic S.F. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999, 45:75-81.
9. +?. Epilepsia 2001, 42:837-844.
10. Dravet C., Bureau M., Oguni H., Fukuyama Y., Cokar O. Severe myoclonic epilepsy in infancy (Dravet syndrome). Epileptic syndromes in infancy, childhood and adolescence 2002, 81-103. John Libbey & Co Ltd, United Kingdom. 3rd ed. J. Roger, M. Bureau, C. Dravet, P. Genton, C.A. Tassinari, P. Wolf (Eds.).
11. Tro-Baumann B., von Spiczak S., Lotte J., Bast T., Haberlandt E., Sassen R., et al. A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. Epilepsia 2011, 52:175-178.
12. 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, 68:1327-1332.
13. Harkin L.A., McMahon J.M., Iona X., Dibbens L., Pelekanos J.T., Zuberi S.M., et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007, 130:843-852.
14. Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000, 24:343-345.
15. v1.1 dysfunction in genetic epilepsy with febrile seizure-plus or Dravet syndrome. Eur J Neurosci 2011, 34:1268-1275.
16. Morse R.P. Dravet syndrome: inroads into understanding epileptic encephalopathies. J Pediatr 2011, 158:354-359.
17. Escayg A., Goldin A.L. Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia 2010, 51:1650-1658.
18. Zuberi S.M., Brunklaus A., Birch R., Reavey E., Duncan J., Forbes G.H. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology 2011, 76:594-600.
19. Orrico A., Galli L., Grosso S., Buoni S., Pianigiani R., Balestri P., et al. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. Clin Genet 2009, 75:579-581.
20. Sun H., Zhang Y., Liu X., Ma X., Yang Z., Qin J., et al. Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome. J Hum Genet 2010, 55:421-427.
21. Kwong A.K.Y., Fung C.W., Chan S.Y., Wong V.C.N. Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. PLoS ONE 2012, 7:e41802.
22. Rodda J.M., Scheffer I.E., McMahon J.M., Berkovic S.F., Graham H.K. Progressive gait deterioration in adolescents with Dravet syndrome. Arch Neurol 2012, 69:873-878.
23. Caraballo R.H., Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Res 2006, 70:S231-S238.
24. Specchio N., Balestri M., Trivisano M., Japaridze N., Striano P., Carotenuto A., et al. Electroencephalographic features in Dravet syndrome: five-year follow-up study in 22 patients. J Child Neurol 2012, 27:439-444.
25. Arzimanoglou A. Dravet syndrome: from electroclinical characteristics to molecular biology. Epilepsia 2009, 50(Suppl. 8):3-9.
26. Bureau M., Bernardina B.D. Electroencephalographic characteristics of Dravet syndrome. Epilepsia 2011, 52(Suppl. 2):13-23.
27. Ogino T. Severe myoclonic epilepsy in infancy - a clinical and electroencephalographic study (in Japanese). J Jpn Epil Soc 1986, 4:114-126.
28. Wallace R.H., Scheffer I.E., Barnett S., Richards M., Dibbens L., Desai R.R., et al. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001, 68:859-865.
29. 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.
30. Specchio N., Kasteleijn-Nolst Trenité D.G.A., Piccioli M., Specchio L.M., Trivisano M., Fusco L., et al. Diagnosing photosensitive epilepsy: fancy new versus old fashioned techniques in patients with different epileptic syndromes. Brain Dev 2011, 33:294-300.
31. Hattori J., Ouchida M., Ono J., Miyake S., Maniwa S., Mimaki N., et al. A screening test for prediction of Dravet syndrome before one year of age. Epilepsia 2008, 49:626-633.
32. Fountain-Capal J.K., Holland K.D., Gilbert D.L., Hallinan B.E. When should clinicians order genetic testing for Dravet syndrome?. Pediatr Neurol 2011, 45:319-323.