Photoparoxysmal EEG response and genetic dissection of juvenile myoclonic epilepsy.
Epilepsy Behav
; 28 Suppl 1: S69-71, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23756485
ABSTRACT
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.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Epilepsia Mioclônica Juvenil
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article