Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes
✍ Scribed by Guipponi, Michel; Thomas, Pierre; Girard-Reydet, Claire; Feingold, Josué; Baldy-Moulinier, Michel; Malafosse, Alain
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 137 KB
- Volume
- 74
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
Alpha5 and beta3 GABA A receptor genes are major candidates for epilepsy, as they code for subunits of the most important human inhibitory neurotransmitter. Moreover, they are located within a region of the human genome previously implicated in disorders including epilepsy. We carried out an association study between dinucleotide repeat polymorphisms in these two genes and juvenile myoclonic epilepsy (JME). JME is the most common idiopathic epilepsy and is characterized by a complex mode of inheritance. We did not find significant differences between controls and patients for allele or genotype frequencies. Am.
📜 SIMILAR VOLUMES
Genetic anticipation, a phenomenon characterized by increased severity of symptoms and earlier age at onset of a disease in successive generations, is believed to be present in schizophrenia. In several neurodegenerative diseases showing anticipation, the mutation causing the disease is an expanded