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

Afdeling for Børn og Unge

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

Emneord

Chromosome Aberrations
Comparative Genomic Hybridization
Diagnosis, Differential
Epilepsy
Genetic Testing
Humans
Infant
Spasms, Infantile

Citationsformater

@article{cbaffe89645f41b9a2c61172dcf9da97,

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.",

keywords = "Chromosome Aberrations, Comparative Genomic Hybridization, Diagnosis, Differential, Epilepsy, Genetic Testing, Humans, Infant, Spasms, Infantile",

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.

KW - Chromosome Aberrations

KW - Comparative Genomic Hybridization

KW - Diagnosis, Differential

KW - Epilepsy

KW - Genetic Testing

KW - Humans

KW - Infant

KW - Spasms, Infantile

M3 - Tidsskriftartikel

C2 - 22533931

SN - 0041-5782

VL - 174

SP - 1152

EP - 1155

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 17

ER -

Genetisk udredning ved infantile spasmer

Abstract

Emneord

Fingeraftryk

Citationsformater