Source:http://linkedlifedata.com/resource/pubmed/id/20738378
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
2010-9-28
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
1528-1167
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
51
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
1915-8
|
| pubmed:meshHeading |
pubmed-meshheading:20738378-Cause of Death,
pubmed-meshheading:20738378-Child,
pubmed-meshheading:20738378-Death, Sudden,
pubmed-meshheading:20738378-Epilepsies, Myoclonic,
pubmed-meshheading:20738378-Humans,
pubmed-meshheading:20738378-Male,
pubmed-meshheading:20738378-Malformations of Cortical Development,
pubmed-meshheading:20738378-Mutation,
pubmed-meshheading:20738378-Nerve Tissue Proteins,
pubmed-meshheading:20738378-Sodium Channels
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
|
| pubmed:affiliation |
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Francois.Legal@hcuge.ch
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|