Cardiac channel molecular autopsy for sudden unexpected death in epilepsy

Jonathan N. Johnson, David J. Tester, Nancy E. Bass, Michael J. Ackerman

Research output: Contribution to journalArticle

39 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)916-921
Number of pages6
JournalJournal of child neurology
Issue number7
StatePublished - Jul 2010



  • catecholaminergic polymorphic ventricular tachycardia
  • epilepsy
  • long QT syndrome
  • molecular autopsy
  • ryanodine receptor
  • sudden death

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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