A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation.
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.
Le Gal
François
F
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland. Francois.Legal@hcuge.ch
Korff
Christian M
CM
Monso-Hinard
Christine
C
Mund
Michael T
MT
Morris
Michael
M
Malafosse
Alain
A
Schmitt-Mechelke
Thomas
T
D002423:Cause of Death; D002648:Child; D003645:Death, Sudden / Q000453:epidemiology*; D004831:Epilepsies, Myoclonic / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality*; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality*; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels