[Dravet syndrome diagnostics].
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.
Hansen
Lars Kjaersgård
LK
H.C. Andersen Børnehospital, Odense Universitetshospital, DK-5000 Odense C, Denmark. lars.kjaersgaard@dadlnet.dk
Rasmussen
Niels Henrik
NH
Ousager
Lilian Bomme
LB
D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D057210:Delayed Diagnosis; D042241:Early Diagnosis; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D015222:Sodium Channels / Q000235:genetics; D013577:Syndrome
D000927:Anticonvulsants; D015222:Sodium Channels