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


Le Gal, F; Korff, C M; Monso-Hinard, C; Mund, M T; Morris, M; Malafosse, A; Schmid, T (2010). A case of SUDEP in a patient with DRAVET syndrome with SCN1A mutation. Epilepsia, 51(9):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.

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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32 citations in Web of Science®
37 citations in Scopus®
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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Legal Medicine
Dewey Decimal Classification:340 Law
610 Medicine & health
Language:English
Date:2010
Deposited On:16 Aug 2010 12:41
Last Modified:05 Apr 2016 14:13
Publisher:Wiley-Blackwell
ISSN:0013-9580
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1111/j.1528-1167.2010.02691.x

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