Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations

Brain and Development

Volumn 36, Issue 8, 2014, Pages 676-681

  Xu, Xiaojing ^a   Zhang, Yuehua ^a   Sun, Huihui ^b   Liu, Xiaoyan ^a   Yang, Xiaoling ^a   Xiong, Hui ^a   Jiang, Yuwu ^a   Bao, Xinhua ^a   Wang, Shuang ^a   Yang, Zhixian ^a   Wu, Ye ^a   Qin, Jiong ^a   Lin, Qing ^a   Wu, Xiru ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Jishuitan Orthopaedic College of Tsinghua University   (China)

Author keywords

Diagnosis; Dravet syndrome; Febrile seizures; Mutation; SCN1A gene

Indexed keywords

CARBAMAZEPINE; DIPHTHERIA PERTUSSIS TETANUS VACCINE; GENOMIC DNA; HEPATITIS B VACCINE; INFLUENZA VACCINE; LAMOTRIGINE; MEASLES VACCINE; MENINGITIS VACCINE; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; SODIUM CHANNEL NAV1.1; ANTICONVULSIVE AGENT; SCN1A PROTEIN, HUMAN;

ARTICLE; CHINESE; CLINICAL EXAMINATION; CLINICAL FEATURE; CLONIC SEIZURE; CONVULSION; DNA SEQUENCE; EARLY DIAGNOSIS; ELECTROENCEPHALOGRAPHY; EPIDEMIC MENINGITIS; EPIDEMIOLOGY; FEBRILE CONVULSION; FEMALE; FEVER; FOCAL EPILEPSY; FOLLOW UP; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NONSENSE MUTATION; ONSET AGE; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; CHINA; EPILEPSIES, MYOCLONIC; GENETICS; MUTATION; SEIZURES, FEBRILE;

AGE OF ONSET; ANTICONVULSANTS; CHINA; EPILEPSIES, MYOCLONIC; HUMANS; INFANT; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; SEIZURES, FEBRILE;

EID: 84904507658     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.10.004     Document Type: Article

References (33)

1. 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.
2. Fukuma G., Oguni H., Shirasaka Y., Watanabe K., Miyajima T., Yasumoto S., et al. 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 2004, 45:140-148.
3. Mulley J.C., Nelson P., Guerrero S., Dibbens L., Iona X., McMahon J.M., et al. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Neurology 2006, 67:1094-1095.
4. Chipaux M., Villeneuve N., Sabouraud P., Desguerre I., Boddaert N., Depienne C., et al. Unusual consequences of status epilepticus in Dravet syndrome. Seizure 2010, 19:190-194.
5. Korff C., Laux L., Kelley K., Goldstein J., Koh S., Nordli D. Dravet syndrome (severe myoclonic epilepsy in infancy): a retrospective study of 16 patients. J Child Neurol 2007, 22:185-194.
6. Striano P., Coppola A., Pezzella M., Ciampa C., Specchio N., Ragona F., et al. An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology 2007, 69:250-254.
7. Baulac S., Gourfinkel-An I., Nabbout R., Huberfeld G., Serratosa J., Leguem E., et al. Fever, genes and epilepsy. Lancet Neurol 2004, 3:421-430.
8. 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.
9. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215.
10. 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.
11. Annegers J.F., Hauser W.A., Shirts S.B., Kurland L.T. Factors prognostic of unprovoked seizures after febrile convulsions. N Engl J Med 1987, 316:493-498.
12. Hauser W.A. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994, 35(Suppl. 2):S1-6.
13. Offringa M., Hazebroek-Kampschreur A.A., Derksen-Lubsen G. Prevalence of febrile seizures in Dutch schoolchildren. Paediatr Perinat Epidemiol 1991, 5:181-188.
14. Berg A.T., Shinnar S. Complex febrile seizures. Epilepsia 1996, 37:126-133.
15. Commission on Epidemiology and Prognosis International league against epilepsy guidelines for epidemiologic studies on epilepsy. Epilepsia 1993, 34:592-596.
16. Verity C.M., Golding J. Risk of epilepsy after febrile convulsions: a national cohort study. BMJ 1991, 303:1373-1376.
17. Berg A.T., Shinnar S. Unprovoked seizures in children with febrile seizures: short-term outcome. Neurology 1996, 47:562-568.
18. Baumann R.J., Duffner P.K. Treatment of children with simple febrile seizures: the AAP practice parameter. Am Acad Pediatr 2000, 23:11-17.
19. Trinka E., Unterrainer J., Haberlandt E., Luef G., Unterberger I., Niedermüller U., et al. Childhood febrile convulsions-which factors determine the subsequent epilepsy syndrome? A retrospective study. Epilepsy Res 2002, 50:283-292.
20. Waruiru C., Appleton R. Febrile seizures: an update. Arch Dis Child 2004, 89:751-756.
21. 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.
22. Hattori J., Ouchida M., Ono J., Miyake S., Maniwa S., Mimaki N., et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia 2008, 49:626-633.
23. Ragona F., Brazzo D., De Giorgi I., Morbi M., Freri E., Teutonico F., et al. Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain Dev 2010, 32:71-77.
24. Caraballo R.H., Fejerman N. Dravet syndrome: a study of 53 patients. Epilepsy Res 2006, 70(Suppl 1):S231-8.
25. Nieto-Barrera M., Lillo M.M., Rodríguez-Collado C., Candau R., Correa A. Severe myoclonic epilepsy in childhood. Epidemiologic analytical study. Rev Neurol 2000, 30:620-624.
26. Berkovic S.F., Harkin L., McMahon J.M., Pelekanos J.T., Zuberi S.M., Wirrell E.C., et al. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol 2006, 5:488-492.
27. McIntosh A.M., McMahon J., Dibbens L.M., Iona X., Mulley J.C., Scheffer I.E., et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol 2010, 9:592-598.
28. Barlow W.E., Davis R.L., Glasser J.W., Rhodes P.H., Thompson R.S., Mullooly J.P., et al. Centers for disease control and prevention vaccine safety datalink working group. The risk of seizures after receipt of whole-cell pertussis or measles, mumps, and rubella vaccine. N Engl J Med 2001, 345:656-661.
29. Farrington P., Pugh S., Colville A., Flower A., Nash J., Morgan-Capner P., et al. A new method for active surveillance of adverse events from diphtheria/tetanus/pertussis and measles/mumps/rubella vaccines. Lancet 1995, 345:567-569.
30. Cendes F., Sankar R. Vaccinations and febrile seizures. Epilepsia 2011, 52(Suppl 3):23-25.
31. Sugawara T., Tsurubuchi Y., Fujiwara T., Mazaki-Miyazaki E., Nagata K., Montal M., et al. Navl. 1channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 2003, 54:201-207.
32. Brodie M.J. Antiepileptic drug therapy the story so far. Seizure 2010, 19:650-655.
33. Caraballo R.H., Cersósimo R.O., Sakr D., Cresta A., Escobal N., Fejerman N. Ketogenic diet in patients with Dravet syndrome. Epilepsia 2005, 46:1539-1544.