A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

作者：Le Gal Francois^*; Korff Christian M; Monso Hinard Christine; Mund Michael T; Morris Michael; Malafosse Alain; Schmitt Mechelke Thomas

来源：Epilepsia, 2010, 51(9): 1915-1918.

DOI：10.1111/j.1528-1167.2010.02691.x

• SUDEP
• Dravet syndrome
• SMEI
• SCN1A

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.

• 出版日期2010-9