Dravet Syndrome: Severe Myoclonic Epilepsy in Infancy –  Case Reports

Authors: P. Danhofer 1;  O. Horák 1;  L. Fajkusová 2;  J. Pavloušková 2;  H. Ošlejšková 1
Authors‘ workplace: LF MU a FN Brno Klinika dětské neurologie, Centrum pro epilepsie Brno 1;  LF MU a FN Brno Centrum molekulární biologie a genové terapie Interní hemato­onkologické kliniky 2
Published in: Cesk Slov Neurol N 2014; 77/110(2): 243-246
Category: Case Report


Dravet syndrome (DS) is classified as a rare progressive epileptic encephalopathy. Seizure onset is in the first year of life in thus far normally developing children. Typically, prolonged generalised convulsive seizures occur. Subsequently, other types of seizures are seen, accompanied by deterioration of psychomotor development. At present, detection of a specific mutation may confirm the clinical syndrome. 70–80% of patients have mutation in SCN1A gene, 5% in PCDH19 gene. Rarely, mutations in the GABARG2 gene and SCN1B gene are detected. Early diagnosis of DS is very important from the therapeutical point of view. Two case reports of patients with typical clinical course of DS and genetically detected mutation in SCN1A gene are presented.

Key words:
Dravet syndrome – myoclonic epilepsy – epilepsy – therapy

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.


1. Panayiotopoulos CP. A clinical guide to Epileptic syndromes and their treatment. 2nd ed. London: Springer Healthcare Ltd 2002: 283– 287.

2. Dravet C. Les épilepsies graves de l’enfant. Vie Med 1978; 8: 543– 548.

3. Commission on Classification and the Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30(4): 389– 399.

4. Berg AT, Berkovic SF, Brodie MJ, Buchhlater J, Cross HJ,Van Emde Boas W et al. Revised terminology and concepts for organisation of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005– 2009. Epilepsia 2010; 51(4): 676– 685.

5. Marini C, Scheffer IE, Nabbout R, Suls A, de Jonghe P,Zara F et al. The genetics of Dravet syndrome. Epilepsia 2011; 52 (Suppl 2): 24– 29.

6. Yu FH, Mantegazza M, Westenbroek RE, Robbins CA,Klaume F, Burton KA et al. Reduced sodium cur­rent in GABAergic interneurons in a mouse model of severe epilepsy in infancy. Nat Neurosci 2006; 9(9): 1142– 1149.

7. Dravet C, Guerrini R. Dravet syndrome. Topics in Epilepsy series. Vol. 3. London: John Libbey Eurotext 2011: 51– 61.

8. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F,Wallace RH et al. Truncation of the GABA/ A- receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002; 70(2): 530– 536.

9. Patino GA, Claes LR, Lopez‑ Santiago LF, Slat EA, Dondeti RS, Chen C et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci 2009; 29(34): 10764– 10778.

10. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O et al. Sporadic infantile epiletic encephalopathy caused by mutation in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009; 5: e1000381.

11. Chiron C. Current therapeutic procedures in Dravet syndrome. Dev Med Child Neurol 2011; 53 (Suppl 2): 16– 18.

12. Chiron C, Marchand MC, Tran A. STICLO study group. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo‑controlled syndrome‑ dedicated trial. Lancet 2000; 356(9242): 1638– 1642.

13. Kassaï B, Chiron C, Augier S, Cucherat M, Rey E,Gueyffier F et al. Severe myoclonic epilepsy in infancy: a systematic review and a meta‑analysis of individual patient data. Epilepsia 2008; 49(2): 343– 348.

14. Coppola G, Capovilla G, Montagnini A, Romeo A,Spanò M, Tortorella G et al. Topiramate as add‑ on drug in severe myoclonic epilepsy in infancy: an Italian multicenter open trial. Epilepsy Res 2002; 49(1): 45– 48.

15. Striano P, Coppola G, Pezzella M, Ciampa C, Specchio N, Ragona F et al. An open‑ label trial of levetiracetam in severe myoclonic epilepsy in infancy. Neurology 2007; 69(3): 250– 254.

16. Caraballo RH. Nonpharmacologic treatments of Dravet syndrome: focus on ketogenic diet. Epilepsia 2011; 52 (Suppl 2): 79– 82.

17. Zamponi N, Passamonti C, Cappanera S, Petrelli C.Clinical course of young patients with Dravet syndrome after vagal nerve stimulation. Eur J Paediatr Neurol 2011; 15(1): 8– 14.

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