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Dravets syndrom er en sjaelden genetisk epilepsiform, som kan forveksles med feberkramper
Engelsk titel: Dravet syndrome is a rare genetic epileptic disorder that can be mistaken for fever cramps Läs online Författare: Johannesen, Katrine Marie Harries ; Bergkvist Hansen, Maria Språk: Dan Antal referenser: 5 Dokumenttyp: Fallbeskrivning UI-nummer: 15027772

Tidskrift

Ugeskrift for Laeger 2014;176(26)2482-3 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

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.