title: Neuroimaging and neurogenetics of epilepsy in humans.
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.
authors.affiliation: University Hospital of Paediatric Neurology, Christian-Albrechts-University of Kiel, Kiel, Germany. m.siniatchkin@pedneuro.uni-kiel.de
authors.forename: M
authors.initials: M
authors.lastname: Siniatchkin
authors.forename: M
authors.initials: M
authors.lastname: Koepp
mesh_terms: D000818:Animals; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D017034:Epilepsy, Frontal Lobe / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics / Q000503:physiopathology; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism; D011950:Receptors, Cholinergic / Q000235:genetics / Q000378:metabolism; D011963:Receptors, GABA-A / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism
chemical_list: C546279:GABRG2 protein, human; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D011950:Receptors, Cholinergic; D011963:Receptors, GABA-A; C568242:SCN1A protein, human; D015222:Sodium Channels