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Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy.

Martine UittenbogaardAndrea GropmanChristine A BrantnerAnne Chiaramello
Published in: Clinical case reports (2018)
Our study reports the case of a patient with early onset of epileptic encephalopathy harboring compound heterozygous Szt2 variants. We provide the first evidence that these Szt2 variants impair mitochondrial energy metabolism. Our results shed light on their pathogenic molecular mechanism and clinical implications for brain development and disease progression.
Keyphrases
  • early onset
  • late onset
  • copy number
  • oxidative stress
  • genome wide
  • white matter
  • emergency department
  • gene expression
  • dna methylation
  • multiple sclerosis
  • resting state
  • cerebral ischemia
  • drug induced