Journal
EPILEPSIA
Volume 51, Issue 9, Pages 1915-1918Publisher
WILEY-BLACKWELL
DOI: 10.1111/j.1528-1167.2010.02691.x
Keywords
SUDEP; Dravet syndrome; SMEI; SCN1A
Categories
Funding
- UCB Pharma AG
- Swiss Life Foundation
- Pictet Cie
- Prim'Enfance Foundation
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P>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.
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