Genetisk udredning ved infantile spasmer

Lars Kjærsgaard Hansen; Lilian Bomme Ousager; Rikke Steensbjerre Møller; Peter V Uldall; Helle Hjalgrim

Genetisk udredning ved infantile spasmer

Lars Kjærsgaard Hansen, Lilian Bomme Ousager, Rikke Steensbjerre Møller, Peter V Uldall, Helle Hjalgrim

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

3 Citationer (Scopus)

Abstract

Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the first-line analysis and present an overview of relevant present possibilities for genetic testing.

Bidragets oversatte titel	Genetic causes of infantile spasms--a systematic review
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	174
Udgave nummer	17
Sider (fra-til)	1152-5
Antal sider	4
ISSN	0041-5782
Status	Udgivet - 2012

Adgang til dokumentet

http://ugeskriftet.dk/files/ugeskriftet.dk/artikel_4446.pdf

Citationsformater

@article{8de0276cd4c64d82a068ab087ce99c0e,

title = "Genetisk udredning ved infantile spasmer",

abstract = "Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the first-line analysis and present an overview of relevant present possibilities for genetic testing.",

author = "Hansen, {Lars Kj{\ae}rsgaard} and Ousager, {Lilian Bomme} and M{\o}ller, {Rikke Steensbjerre} and Uldall, {Peter V} and Helle Hjalgrim",

year = "2012",

language = "Dansk",

volume = "174",

pages = "1152--5",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "17",

}

TY - JOUR

T1 - Genetisk udredning ved infantile spasmer

AU - Hansen, Lars Kjærsgaard

AU - Ousager, Lilian Bomme

AU - Møller, Rikke Steensbjerre

AU - Uldall, Peter V

AU - Hjalgrim, Helle

PY - 2012

Y1 - 2012

N2 - Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the first-line analysis and present an overview of relevant present possibilities for genetic testing.

AB - Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the first-line analysis and present an overview of relevant present possibilities for genetic testing.

M3 - Tidsskriftartikel

VL - 174

SP - 1152

EP - 1155

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 17

ER -