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A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep.

Andrew SilvermanAnn HyslopWilliam GallentineChethan Rao
Published in: Pediatric neurology (2024)
This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.
Keyphrases
  • early onset
  • genome wide
  • sleep quality
  • physical activity
  • contrast enhanced
  • copy number
  • magnetic resonance imaging
  • magnetic resonance
  • gene expression