In:
Epilepsia, Wiley, Vol. 54, No. 8 ( 2013-08)
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 KCNH 2 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 .
Type of Medium:
Online Resource
ISSN:
0013-9580
,
1528-1167
DOI:
10.1111/epi.2013.54.issue-8
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2002194-X
