A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management

Am J Med Genet A. 2017 Feb;173(2):324-326. doi: 10.1002/ajmg.a.37979. Epub 2016 Nov 7.


Complex, and sometimes intractable, seizures affect the quality of life and cognitive development of over 90% of individuals with Wolf-Hirschhorn syndrome (WHS). Fine resolution genotype-phenotype mapping of the WHS locus recently identified a candidate gene whose probable function has led to insights into a mechanism connecting WHS seizures with those of Dravet syndrome, a distinct condition caused by mutations in SCN1A and SCN1B. In addition to this possible molecular mechanistic connection, these disorders' seizures share a strikingly similar constellation of features, including clinical presentation, seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs. Based in part on these similarities, we suggest that a highly successful Phase III clinical trial of a formulation of cannabidiol for Dravet syndrome seizures may be directly translatable into possible benefits for WHS individuals with challenging seizure patterns. © 2016 Wiley Periodicals, Inc.

Keywords: Dravet syndrome; Wolf-Hirschhorn syndrome; cannabidiol; seizures.

Publication types

  • Letter

MeSH terms

  • Cannabidiol / therapeutic use*
  • Genetic Association Studies
  • Genetic Testing
  • Humans
  • Mutation
  • Phenotype
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Seizures / drug therapy*
  • Seizures / genetics
  • Treatment Outcome
  • Wolf-Hirschhorn Syndrome / diagnosis*
  • Wolf-Hirschhorn Syndrome / drug therapy*
  • Wolf-Hirschhorn Syndrome / genetics


  • Cannabidiol
  • PIGG protein, human
  • Phosphotransferases (Alcohol Group Acceptor)