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

A case for cannabidiol in Wolf-Hirschhorn syndrome seizure management.

Author information

1
Lineagen, Inc., Salt Lake City, Utah.
2
Department of Pediatrics, School of Medicine, University of Utah, Salt Lake City, Utah.

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.

KEYWORDS:

Dravet syndrome; Wolf-Hirschhorn syndrome; cannabidiol; seizures

PMID:
28102593
PMCID:
PMC6585685
DOI:
10.1002/ajmg.a.37979
[Indexed for MEDLINE]
Free PMC Article

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