Ugeskr Laeger. 2010 Feb 22;172(8):626-7.

[Dravet syndrome diagnostics].

[Article in Danish]

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H.C. Andersen Børnehospital, Odense Universitetshospital, DK-5000 Odense C, Denmark. lars.kjaersgaard@dadlnet.dk

Abstract

Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children received inappropriate medication. Early diagnosis including genetic testing could possibly make the outcome more favourable and reduce the need for other specialized aetiologic investigations.

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