Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy

Seizure. 2023 Feb:105:14-16. doi: 10.1016/j.seizure.2023.01.001. Epub 2023 Jan 3.
No abstract available

Keywords: Developmental epileptic encephalopathy; PACS2; Pyridoxine; Status epilepticus; Treatment; Vitamin.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases* / chemically induced
  • Brain Diseases* / drug therapy
  • Dietary Supplements
  • Humans
  • Pyridoxine / therapeutic use
  • Vesicular Transport Proteins
  • Vitamin B Complex* / therapeutic use

Substances

  • Pyridoxine
  • Vitamin B Complex
  • PACS2 protein, human
  • Vesicular Transport Proteins