期刊
EPILEPSY & BEHAVIOR
卷 28, 期 -, 页码 S69-S71出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.yebeh.2012.07.016
关键词
Photoparoxysmal EEG response; Genetics; Juvenile myoclonic epilepsy
Heritable EEG traits are often associated with epilepsy, and photoparoxysmal EEG response (PPR) is the most notable example of this observation in JME. Such EEG traits may be a subclinical expression of the defective mechanism that leads to epilepsy. Therefore, these traits can be used to map epilepsy genes by dissecting the complex epilepsy phenotype in endophenotypic sections that on their own have a presumed monogenic cause. Two characteristics make PPR particularly interesting as a useful endophenotype for epilepsy gene mapping. First, it shows an increased comorbidity with some but not all forms of epilepsy. Second, its mode of inheritance is compatible with a monogenic cause, which promises relative straightforward gene identification through positional cloning. Here, we summarize the current state of affairs. This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?. (C) 2012 Elsevier Inc. All rights reserved.
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