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Revista Clínica de Medicina de Familia

On-line version ISSN 2386-8201Print version ISSN 1699-695X

Abstract

MINGARRO CASTILLO, M.ª Mercedes; CARMONA DE LA MORENA, Javier; LATRE MARTINEZ, Paz  and  ARAS PORTILLA, Luis Miguel. Dravet Syndrome. Rev Clin Med Fam [online]. 2014, vol.7, n.2, pp.134-136. ISSN 2386-8201.  http://dx.doi.org/10.4321/S1699-695X2014000200008.

Dravet Syndrome is a severe type of epilepsy, genetic in origin, which presents in childhood. Produces delay in cognitive development as well as learning, coordination of movements and behavior disabilities. Our patient is an eigth year old child who at 4 months of age presented with tonic-clonic seizure following vaccination and fever. The assessment was normal but due to persisting crisis, drug therapy with sodium channel blockers was administered. This worsened the disease. A genetic study, that Dravet Foundation provides free of charge, turned up positive for SCN1A. At present, the girl suffers a mild mental disorder, and seizures persist despite treatment with valproic acid, topiramate, clobazam and stiripentol.

Keywords : Epilepsy; Rare Diseases; Genetics; Medical; Cognition Disorders.

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