A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
- Le Gal F Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Francois.Legal@hcuge.ch
- Korff CM
- Monso-Hinard C
- Mund MT
- Morris M
- Malafosse A
- Schmitt-Mechelke T
- 2010-08-27
Published in:
- Epilepsia. - 2010
Cause of Death
Child
Death, Sudden
Epilepsies, Myoclonic
Humans
Male
Malformations of Cortical Development
Mutation
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins
Sodium Channels
English
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.
- Language
-
- English
- Open access status
- bronze
- Identifiers
-
- DOI 10.1111/j.1528-1167.2010.02691.x
- PMID 20738378
- Persistent URL
- https://sonar.ch/global/documents/245225
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