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A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
Author(s) -
Le Gal François,
Korff Christian M.,
MonsoHinard Christine,
Mund Michael T.,
Morris Michael,
Malafosse Alain,
SchmittMechelke Thomas
Publication year - 2010
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2010.02691.x
Subject(s) - dravet syndrome , frameshift mutation , multiplex ligation dependent probe amplification , epilepsy , medicine , myoclonic epilepsy , mutation , pediatrics , genetics , biology , gene , psychiatry , exon
Summary 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.