Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6277572 | Neuroscience | 2009 | 10 Pages |
Abstract
In the past decade, several genetic mutations have been associated with different forms of familial focal and generalized epilepsies. Most of these genes encode ion-channel subunits. Based on neurophysiological in vitro and in vivo animal studies, substantial progress has been made in understanding the functional consequences of gene defects associated with epilepsies. However, the knowledge transition from animal studies to patients carrying a mutation, or even suffering from a nonfamilial form of epilepsy, is very limited. This review will illustrate how neuroimaging studies in humans may help to bridge the gap between genotype and phenotype. We will be presenting examples of familial focal (autosomal dominant nocturnal frontal lobe epilepsy), idiopathic generalized epilepsies (severe myoclonic epilepsy of infancy). Such studies will help to better understand functional consequences of genetic alterations and may contribute to a better phenotype characterization.
Keywords
ADNFLEIgEChannelopathySMEICAEREMGEFS+MRIEpilepsyGeneralized epilepsy with febrile seizures plusMagnetic resonance imagingNeuroimagingPositron emission tomographyrapid eye movementSevere myoclonic epilepsy of infancyIdiopathic generalized epilepsyChildhood absence epilepsyAutosomal dominant nocturnal frontal lobe epilepsyPETnAChGenetics
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Authors
M. Siniatchkin, M. Koepp,