Importance of post-mortem genetic testing in SUDEP patients

S. Partemi, M. Coll Vidal, O. Campuzano, M. Pezzella, R. Paravidino, V. L. Pascali, C. A. Tassinari, S. Striano, F. Zara, R. Brugada, P. Striano, A. Oliva

Research output: Contribution to journalArticle

Abstract

There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T > C) in the KCNH2 gene. Functional studies showed that the mutation induces severe loss of function. This observation provides further evidence for a possible link between idiopathic epilepsy and LQTS.

Original languageEnglish
JournalForensic Science International: Genetics Supplement Series
Volume4
Issue number1
DOIs
Publication statusPublished - 2013

Keywords

  • Channelopathy
  • Epilepsy
  • KCNH2
  • LQT syndrome
  • SUDEP

ASJC Scopus subject areas

  • Genetics
  • Pathology and Forensic Medicine

Fingerprint Dive into the research topics of 'Importance of post-mortem genetic testing in SUDEP patients'. Together they form a unique fingerprint.

  • Cite this

    Partemi, S., Vidal, M. C., Campuzano, O., Pezzella, M., Paravidino, R., Pascali, V. L., Tassinari, C. A., Striano, S., Zara, F., Brugada, R., Striano, P., & Oliva, A. (2013). Importance of post-mortem genetic testing in SUDEP patients. Forensic Science International: Genetics Supplement Series, 4(1). https://doi.org/10.1016/j.fsigss.2013.10.180