Diagnostik af Dravet syndrom

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.
Udgivelsesdato: 2010-Feb-22
OriginalsprogDansk
TidsskriftUgeskrift for læger
Vol/bind172
Udgave nummer8
Sider (fra-til)626-7
Antal sider1
ISSN0041-5782
StatusUdgivet - 22. feb. 2010

Citer dette

Hansen, Lars Kjaersgård ; Rasmussen, Niels Henrik ; Ousager, Lilian Bomme. / Diagnostik af Dravet syndrom. I: Ugeskrift for læger. 2010 ; Bind 172, Nr. 8. s. 626-7.
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Hansen, LK, Rasmussen, NH & Ousager, LB 2010, 'Diagnostik af Dravet syndrom', Ugeskrift for læger, bind 172, nr. 8, s. 626-7.

Diagnostik af Dravet syndrom. / Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme.

I: Ugeskrift for læger, Bind 172, Nr. 8, 22.02.2010, s. 626-7.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Diagnostik af Dravet syndrom

AU - Hansen, Lars Kjaersgård

AU - Rasmussen, Niels Henrik

AU - Ousager, Lilian Bomme

PY - 2010/2/22

Y1 - 2010/2/22

N2 - 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. Udgivelsesdato: 2010-Feb-22

AB - 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. Udgivelsesdato: 2010-Feb-22

M3 - Tidsskriftartikel

VL - 172

SP - 626

EP - 627

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

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ER -