title: A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.
abstract: 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.
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah.|Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah.
authors.forename: Karen S
authors.initials: KS
authors.lastname: Ho
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah.
authors.forename: E Robert
authors.initials: ER
authors.lastname: Wassman
mesh_terms: D002185:Cannabidiol / Q000627:therapeutic use*; D056726:Genetic Association Studies; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D012640:Seizures / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics
chemical_list: D002185:Cannabidiol; C000613482:PIGG protein, human; D017853:Phosphotransferases (Alcohol Group Acceptor)
keywords: Dravet syndrome; Wolf-Hirschhorn syndrome; cannabidiol; seizures