A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management

作者：Ho Karen S; Wassman E Robert^*

来源：American Journal of Medical Genetics, Part A, 2017, 173(2): 324-326.

DOI：10.1002/ajmg.a.37979

• cannabidiol
• seizures
• Wolf-Hirschhorn syndrome
• Dravet syndrome

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.

• 出版日期2017-2