Clinical and genetic aspects of idiopathic epilepsies in childhood
| Autor: | Rune R. Frants, Arn M. J. M. van den Maagdenberg, Oebele F. Brouwer, Petra M.C. Callenbach |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
FAMILIAL INFANTILE CONVULSIONS
FEBRILE SEIZURES PLUS Bioinformatics Epilepsy medicine DOMINANT PARTIAL EPILEPSY Humans Effective treatment Epilepsy therapy genetics JUVENILE MYOCLONIC EPILEPSY NICOTINIC ACETYLCHOLINE-RECEPTOR Child Gene clinical characteristics Benign Neonatal Epilepsy business.industry Lateral temporal epilepsy Infant Newborn Chromosome Mapping Infant BENIGN NEONATAL CONVULSIONS General Medicine medicine.disease LATERAL TEMPORAL EPILEPSY PUTATIVE SUSCEPTIBILITY LOCUS Child Preschool Pediatrics Perinatology and Child Health CHANNEL ALPHA-1-SUBUNIT MUTATIONS epilepsy idiopathic Identification (biology) Neurology (clinical) Juvenile myoclonic epilepsy business Neuroscience FRONTAL-LOBE EPILEPSY |
| Zdroj: | European Journal of Paediatric Neurology. 9(2):91-103 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/j.ejpn.2004.12.005 |
| Popis: | The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels or functionally related structures. For many other idiopathic syndromes, there is linkage evidence to one or more chromosomes, but the genes have not yet been identified. Identification of the responsible genes and their gene products will further increase the knowledge of the pathogenic mechanisms involved in epilepsy, and will hopefully facilitate the development of drug targets for the effective treatment of epilepsy. This review gives an overview of the clinical characteristics and an update of genetic research of those idiopathic childhood epilepsies for which genes have been identified and the monogenic idiopathic childhood epilepsies for which mapping data are available. © 2005 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect