A novel GABRG2 mutation associated with febrile seizures
| Autor: | Dominique Audenaert, Kristl G. Claeys, Lieven Lagae, E Schwartz, C. Van Broeckhoven, Robert L. Macdonald, Liesbet Deprez, P. De Jonghe, L Claes, T Van Dyck, Arvid Suls |
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| Rok vydání: | 2006 |
| Předmět: |
Male
Heterozygote medicine.medical_specialty medicine.drug_class DNA Mutational Analysis Mutant Neurological disorder Risk Assessment Seizures Febrile Childhood absence epilepsy Belgium Risk Factors Internal medicine medicine Humans Genetic Predisposition to Disease Generalized epilepsy Child Receptor GABRG2 Benzodiazepine biology business.industry Incidence Heterozygote advantage Prognosis Receptors GABA-A medicine.disease Pedigree Endocrinology Epilepsy Absence Child Preschool Anesthesia Mutation biology.protein Epilepsy Generalized Female Neurology (clinical) business |
| Zdroj: | Neurology |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000230145.73496.a2 |
| Popis: | Mutations in the gene encoding the gamma2 subunit of the gamma-aminobutyric acid type A receptor (GABRG2) have been reported to cause childhood absence epilepsy (CAE), febrile seizures (FS), and generalized epilepsy with FS plus (GEFS+). The authors analyzed GABRG2 in 47 unrelated patients with CAE, FS, and GEFS+ and identified a novel mutation that cosegregated with FS. Electrophysiologic studies demonstrated altered current desensitization and reduced benzodiazepine enhancement in mutant receptors. |
| Databáze: | OpenAIRE |
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