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Cardiac channel molecular autopsy for sudden unexpected death in epilepsy. J Child Neurol 2010 Jul;25(7):916-21

Date

04/17/2010

Pubmed ID

20395638

DOI

10.1177/0883073809343722

Scopus ID

2-s2.0-77954419075   45 Citations

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.

Author List

Johnson JN, Tester DJ, Bass NE, Ackerman MJ

Author

Nancy Bass MD Professor in the Neurology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Alleles
Brain
Child
Death, Sudden, Cardiac
Electrocardiography
Electroencephalography
Epilepsy
Exons
Fatal Outcome
Female
Humans
Mutation, Missense
Ryanodine Receptor Calcium Release Channel
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Tachycardia, Ventricular