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Homozygous HLA-DQB1*06:02 combined with T-cell receptor alpha polymorphism results in narcolepsy onset - A familial case report.

Steven JervisAntony PaytonArpana VermaRachel ThomassonKay Victoria Poulton
Published in: International journal of immunogenetics (2024)
Narcolepsy is a life-long neurological disorder with well-established genetic risk factors. Human leukocyte antigen-DQB1*06:02 remains the strongest genetic predeterminant; however, polymorphisms in genes encoding the T-cell receptor alpha chain are also strongly linked. This case report shows the inheritance pathway of these genetic markers contributing to narcolepsy onset in a 17-year-old female.
Keyphrases
  • case report
  • genome wide
  • risk factors
  • endothelial cells
  • copy number
  • early onset
  • transcription factor
  • genome wide identification
  • cerebral ischemia