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A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
- Source :
- Epilepsia, Vol. 51, No 9 (2010) pp. 1915-1918
- Publication Year :
- 2010
-
Abstract
- 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.
- Subjects :
- Male
Malformations of Cortical Development/epidemiology/*genetics/*mortality
Mutation/*genetics
340 Law
610 Medicine & health
Epilepsies, Myoclonic
Nerve Tissue Proteins
10218 Institute of Legal Medicine
Nerve Tissue Proteins/*genetics
Sodium Channels
Malformations of Cortical Development
NAV1.1 Voltage-Gated Sodium Channel
Death, Sudden
ddc:616.89
2728 Neurology (clinical)
Death, Sudden/*epidemiology
2808 Neurology
Cause of Death
Sodium Channels/*genetics
Mutation
Humans
ddc:576.5
Child
Epilepsies, Myoclonic/epidemiology/*genetics/*mortality
Subjects
Details
- Language :
- English
- ISSN :
- 00139580
- Database :
- OpenAIRE
- Journal :
- Epilepsia, Vol. 51, No 9 (2010) pp. 1915-1918
- Accession number :
- edsair.pmid.dedup....6e8be920ffc0b13506582bf744e4e146