RESSOURCES

Dravet syndrome History

Dravet C. (1978).

Les épilepsies graves de l’enfant. Vie Medicale 1978; 8, 543-8

 

Sakauchi, M., Oguni, H., Kato, I., Osawa, M., Hirose, S., Kaneko, S., … Fujiwara, T. (2011).

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia, 52(6), 1144–1149.

Dravet syndrome course

Brunklaus, A., Ellis, R., Reavey, E., Forbes, G. H., & Zuberi, S. M. (2012).

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain: a journal of neurology, 135(Pt 8), 2329–2336.

 

Chieffo, D., Battaglia, D., Lettori, D., Del Re, M., Brogna, C., Dravet, C., … Guzzetta, F. (2011).

Neuropsychological development in children with Dravet syndrome. Epilepsy research, 95(1-2), 86–93.

 

Dravet C, Bureau M, Guerrini R, Giraud N, Roger J. (2012)

Dravet syndrome (Severe myoclonic epilepsy in infants). In Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (EdsEpileptic syndromes in infancy, childhood and adolescence. 5th ed. John Libbey & Company Ltd, London, pp. 125–156

 

Jansen, F. E., Sadleir, L. G., Harkin, L. A., Vadlamudi, L., McMahon, J. M., Mulley, J. C. … Berkovic, S. F. (2006).

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology, 67(12), 2224–2226.

 

Martin, P., Rautenstrauβ, B., Abicht, A., Fahrbach, J., & Koster, S. (2010).

Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases. Molecular syndromology, 1(5), 231–238.

 

Nashef L, Brown S.

Epilepsy and sudden death. Lancet. 1996;348:1324–1325

 

Ohki, T., Watanabe, K., Negoro, T., Aso, K., Haga, Y., Kasai, K. … Maeda, N. (1997).

Severe myoclonic epilepsy in infancy: evolution of seizures. Seizure: the journal of the British Epilepsy Association, 6(3), 219–224.

 

Ragona, F., Brazzo, D., De Giorgi, I., Morbi, M., Freri, E., Teutonico, F. … Granata, T. (2010).

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients. Brain & development, 32(1), 71–77.

 

Riva, D., Vago, C., Pantaleoni, C., Bulgheroni, S., Mantegazza, M., & Franceschetti, S. (2009).

Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. American journal of medical genetics. Part A, 149A(10), 2339–2345.

 

Sakauchi, M., Oguni, H., Kato, I., Osawa, M., Hirose, S., Kaneko, S. … Fujiwara, T. (2011).

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia, 52(6), 1144–1149.

 

Wang, P. J., Fan, P. C., Lee, W. T., Young, C., Huang, C. C., & Shen, Y. Z. (1996).

Severe myoclonic epilepsy in infancy: evolution of electroencephalographic and clinical features. Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui, 37(6), 428–432.

 

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.

Dravet syndrome causes

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. American journal of human genetics, 68(6), 1327–1332.

 

Depienne, C., & LeGuern, E. (2012).

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Human mutation, 33(4), 627–634.

 

Depienne, C, Trouillard, O., Saint-Martin, C., Gourfinkel-An, I., Bouteiller, D., Carpentier, W., LeGuern, E. (2009).

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patientsJournal of medical genetics, 46(3), 183–191.

 

Nabbout, R., Depienne, C., Chiron, C., & Dulac, O. (2011).

Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology, 76(13), 1193–1194; author reply 1194.

Dravet syndrome management

Berkovic, S. F., Harkin, L., McMahon, J. M., Pelekanos, J. T., Zuberi, S. M., Wirrell, E. C. … Scheffer, I. E. (2006).

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet neurology, 5(6), 488–492.

 

Granata, T. (2011).

Comprehensive care of children with Dravet syndrome. Epilepsia, 52 Suppl 2, 90–94.

 

McIntosh, A. M., McMahon, J., Dibbens, L. M., Iona, X., Mulley, J. C., Scheffer, I. E., & Berkovic, S. F. (2010).

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet neurology, 9(6), 592–598.

 

Nolan, K., Camfield, C. S., & Camfield, P. R. (2008).

Coping with a child with Dravet syndrome: insights from families. Journal of child neurology, 23(6), 690–694.

 

Nolan, K. J., Camfield, C. S., & Camfield, P. R. (2006).

Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy. Developmental medicine and child neurology, 48(9), 761–765

 

Tro-Baumann, B., Von Spiczak, S., Lotte, J., Bast, T., Haberlandt, E., Sassen, R. … Kluger, G. (2011).

A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. Epilepsia, 52(1), 175–178. 

 

Marini, C., Mei, D., Temudo, T., Ferrari, A. R., Buti, D., Dravet, C., … Guerrini, R. (2007).

Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities. Epilepsia, 48(9), 1678–1685.

 

Tanabe, T., Awaya, Y., Matsuishi, T., Iyoda, K., Nagai, T., Kurihara, M., … 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 and Development, 30(10), 629–635