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A novel GABRG2 variant in Sunflower syndrome: a case report and video EEG monitoring.

Jo SourbronRenee ProostKatrien JansenAntonella RivaKirsten EschermannJames Richard BarnettLieven Lagae
Published in: Epileptic disorders : international epilepsy journal with videotape (2023)
Overall, clinicians worldwide should be cautious by interpreting HWE and/or other tic-like movements, since an epileptic origin cannot be ruled out. A prompt and correct diagnosis can be made by performing a video EEG early on in the diagnostic process when epileptic seizures are part of the differential diagnosis. Even though the genetic etiology of Sunflower syndrome remains poorly understood, this constellation supports further genetic testing since the detection of a pathogenic variant can help in making correct decisions regarding ASM management.
Keyphrases
  • functional connectivity
  • resting state
  • working memory
  • case report
  • palliative care
  • copy number
  • dna methylation
  • sensitive detection