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Cardiac channel molecular autopsy for sudden unexpected death in epilepsy
- Source :
- Journal of child neurology. 25(7)
- Publication Year :
- 2010
-
Abstract
- Sudden unexpected death in epilepsy is the sudden, unexplained, unexpected death of an individual with epilepsy in which postmortem examination does not reveal an anatomic or toxicologic cause of death. Patients with congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia have been frequently initially diagnosed with epilepsy. A cardiac channel molecular autopsy of the common long QT syndrome and catecholaminergic polymorphic ventricular tachycardia-susceptibility genes was performed on an archived necropsy specimen from an 8-year-old victim of sudden unexpected death in epilepsy. A novel, sporadic missense mutation in exon 104 of the RYR2-encoded ryanodine receptor/calcium release channel (c. 14806G>A, p.Gly4936Arg) was discovered. This mutation was absent in >600 reference alleles including both parents, involved a highly conserved amino acid, and localized to a key structure-function domain. To our knowledge, this is the first postmortem molecular diagnosis of catecholaminergic polymorphic ventricular tachycardia in a patient with sudden unexpected death in epilepsy.
- Subjects :
- medicine.medical_specialty
Long QT syndrome
Mutation, Missense
Biology
Catecholaminergic polymorphic ventricular tachycardia
Sudden death
Unexpected death
Epilepsy
Electrocardiography
Fatal Outcome
Internal medicine
medicine
Humans
Child
Alleles
Sequence Homology, Amino Acid
Brain
Electroencephalography
Ryanodine Receptor Calcium Release Channel
Exons
Sequence Analysis, DNA
medicine.disease
Death, Sudden, Cardiac
Pediatrics, Perinatology and Child Health
cardiovascular system
Molecular autopsy
Cardiology
Tachycardia, Ventricular
Female
Neurology (clinical)
Subjects
Details
- ISSN :
- 17088283
- Volume :
- 25
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- Journal of child neurology
- Accession number :
- edsair.doi.dedup.....6e7bf48fdafa7d51bdb5f8e66cd7d8c9