Document Detail

Hyperekplexia: treatment of a severe phenotype and review of the literature.
MedLine Citation:
PMID:  21515498     Owner:  NLM     Status:  In-Data-Review    
Hyperekplexia is a rare disorder caused by autosomal dominant or recessive modes of inheritance and characterized by episodes of exaggerated startle. Five causative genes have been identified to date. The syndrome has been recognized for decades and due to its rarity, the literature contains mostly descriptive reports, many early studies lacking molecular genetic diagnoses. A spectrum of clinical severity exists. Severe cases can lead to neonatal cardiac arrest and death during an episode, an outcome prevented by early diagnosis and clinical vigilance. Large treatment studies are not feasible, so therapeutic measures continue to be empiric. A marked response to clonazepam is often reported but refractory cases exist. Herein we report the clinical course and treatment response of a severely affected infant homozygous for an SLC6A5 nonsense mutation and review the literature summarizing the history and genetic understanding of the disease as well as the described comorbidities and treatment options.
Aleksandra Mineyko; Sharon Whiting; Gail E Graham
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques     Volume:  38     ISSN:  0317-1671     ISO Abbreviation:  Can J Neurol Sci     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-04-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0415227     Medline TA:  Can J Neurol Sci     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  411-6     Citation Subset:  IM    
Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
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