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

Le Gal, Francois
Mund, Michael T.
Schmitt-Mechelke, Thomas
Published in Epilepsia. 2010, vol. 51, no. 9, p. 1915-1918
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.
Keywords Cause of DeathChildDeath, Sudden/*epidemiologyEpilepsies, Myoclonic/epidemiology/*genetics/*mortalityHumansMaleMalformations of Cortical Development/epidemiology/*genetics/*mortalityMutation/*geneticsNerve Tissue Proteins/*geneticsSodium Channels/*genetics
PMID: 20738378
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Research groups Groupe Menache Starobinski Caroline (881)
Génétique psychiatrique (4)
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LE GAL, Francois et al. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation. In: Epilepsia, 2010, vol. 51, n° 9, p. 1915-1918. doi: 10.1111/j.1528-1167.2010.02691.x https://archive-ouverte.unige.ch/unige:21080

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Deposited on : 2012-05-23

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