title: [Dravet syndrome is a rare genetic epileptic disorder that can be mistaken for fever cramps].
abstract: Dravet syndrome is a form of epilepsy, beginning in early infancy and characterized by repeated long-term seizures that respond poorly to common antiepileptic treatment. In this case report we describe a case of two twin boys, who developed drug-resistant severe seizures at the age of five months. A SNC1A mutation was found, and the twins were diagnosed with Dravet syndrome. Before relevant treatment was initialized the twins had several cases of status epilepticus. The twins responded well to treatment with stiripentol.
authors.affiliation: Pædiatrisk Afdeling, Næstved Sygehus, Ringstedgade 61, 4700 Næstved. katrinejohannesen@dadlnet.dk.
authors.forename: Katrine Marie Harries
authors.initials: KM
authors.lastname: Johannesen
authors.forename: Maria Bergkvist
authors.initials: MB
authors.lastname: Hansen
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004148:Dioxolanes / Q000627:therapeutic use; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005334:Fever / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics; D014430:Twins, Monozygotic
chemical_list: D000927:Anticonvulsants; D004148:Dioxolanes; D062550:NAV1.1 Voltage-Gated Sodium Channel; C021092:stiripentol