Genetisk udredning ved infantile spasmer

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

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Abstrakt

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 titelGenetic causes of infantile spasms
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind174
Udgave nummer17
Sider (fra-til)1152-1155
ISSN0041-5782
StatusUdgivet - 2012

Emneord

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

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