A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome

Seizure. 2020 Jul:79:53-55. doi: 10.1016/j.seizure.2020.05.001. Epub 2020 May 11.
No abstract available

Keywords: Cerebellar dysgenesis; Early-onset epilepsy; PACS2gene; Sodium channel blockers; Voltage-gated.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Epilepsy / drug therapy*
  • Epilepsy / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Levetiracetam / administration & dosage*
  • Magnetic Resonance Imaging
  • Mutation
  • Phenobarbital / administration & dosage*
  • Phenotype
  • Sodium Channel Blockers
  • Vesicular Transport Proteins / genetics*

Substances

  • PACS2 protein, human
  • Sodium Channel Blockers
  • Vesicular Transport Proteins
  • Levetiracetam
  • Phenobarbital