1. A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
- Author
-
Le Gal, F, Korff, C M, Monso-Hinard, C, Mund, M T, Morris, M, Malafosse, A, Schmid, T, University of Zurich, and Le Gal, F
- Subjects
Male ,Malformations of Cortical Development/epidemiology/*genetics/*mortality ,Mutation/*genetics ,340 Law ,610 Medicine & health ,Epilepsies, Myoclonic ,Nerve Tissue Proteins ,10218 Institute of Legal Medicine ,Nerve Tissue Proteins/*genetics ,Sodium Channels ,Malformations of Cortical Development ,NAV1.1 Voltage-Gated Sodium Channel ,Death, Sudden ,ddc:616.89 ,2728 Neurology (clinical) ,Death, Sudden/*epidemiology ,2808 Neurology ,Cause of Death ,Sodium Channels/*genetics ,Mutation ,Humans ,ddc:576.5 ,Child ,Epilepsies, Myoclonic/epidemiology/*genetics/*mortality - 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.
- Published
- 2010