The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment

Seizure. 2018 Aug:60:68-70. doi: 10.1016/j.seizure.2018.06.010. Epub 2018 Jun 13.

Abstract

Dravet syndrome is a terrible disease generally caused by mutations of the SCN1A gene. Recently others genes such as STXBP1 have been involved in the pathogenesis of the disease. The STXBP1 mutation in patients with Dravet Syndrome may additionally causes several parkinsonian features usually attributed to carriers of the SCN1A mutation. Management continues to be difficult that is why Cannabidiol emerged as valid option for treatment of this condition.

Keywords: Antecollis; Cannabidiol; Dravet syndrome; Parkinsonism; STXBP1; Seizures.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / therapeutic use*
  • Brain / physiopathology
  • Cannabidiol / therapeutic use*
  • Drug Therapy, Combination
  • Epilepsies, Myoclonic / drug therapy*
  • Epilepsies, Myoclonic / genetics*
  • Epilepsies, Myoclonic / physiopathology
  • Female
  • Humans
  • Munc18 Proteins / genetics*
  • Mutation*
  • Phenotype
  • Young Adult

Substances

  • Anticonvulsants
  • Munc18 Proteins
  • STXBP1 protein, human
  • Cannabidiol