Document Detail

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
MedLine Citation:
PMID:  20738378     Owner:  NLM     Status:  MEDLINE    
A boy with a clinical history of pharmacologically resistant Dravet syndrome died suddenly after falling asleep. The autopsy concluded that the cause of death was sudden unexpected death in epilepsy (SUDEP). Postmortem molecular analysis of the SCN1A gene by multiplex ligation-dependent probe amplification (MLPA), high-resolution melting curve analysis (HRMCA), and sequencing revealed a frameshift duplication of adenosine at position 504. The incidence of this mutation is discussed as a potential cause of SUDEP.
François Le Gal; Christian M Korff; Christine Monso-Hinard; Michael T Mund; Michael Morris; Alain Malafosse; Thomas Schmitt-Mechelke
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Epilepsia     Volume:  51     ISSN:  1528-1167     ISO Abbreviation:  Epilepsia     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-09-28     Completed Date:  2010-10-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1915-8     Citation Subset:  IM    
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
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MeSH Terms
Cause of Death
Death, Sudden / epidemiology*
Epilepsies, Myoclonic / epidemiology,  genetics*,  mortality*
Malformations of Cortical Development / epidemiology,  genetics*,  mortality*
Mutation / genetics*
Nerve Tissue Proteins / genetics*
Sodium Channels / genetics*
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Sodium Channels; 0/sodium channel, voltage-gated, type I, alpha protein

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