KCNQ2 POLYMORPHISM ANALYSIS IN IDIOPATHIC GENERALIZED EPILEPSY SYNDROMES
Abstract number :
3.088
Submission category :
Year :
2002
Submission ID :
1832
Source :
www.aesnet.org
Presentation date :
12/7/2002 12:00:00 AM
Published date :
Dec 1, 2002, 06:00 AM
Authors :
Kadriye Agan, Hande Caglayan, Canan Aykut- Bingol. Neurology, Marmara University, Faculty of Medicine, Istanbul, Turkey; Molecular Genetics, University of Bogazici, Istanbul, Turkey
RATIONALE: To examine the relationship between KCNQ2 polymorphism and idiopathic generalized epilepsy syndromes.
METHODS: Four patients having idiopathic generalized epilepsy according to the ILAE-89 classification and with a positive family history followed-up at the Marmara University Hospital epilepsy outpatient clinic are presented in this study. Detailed neurologic history, neurological examination, EEG and neuroradiological imaging in selected cases were performed.
The phenotype of patients and their affected family members were determined according to the ILAE- 89 classification. In order to examine the relationship between KCNQ2 polymorphism and idiopathic generalized epilepsy syndrome, DNA of all the participants were extracted from whole blood samples.
RESULTS: The genotype analysis in all four families affected with the idiopathic generalized epilepsy syndrome revealed a possible linkage of the disease to the KCNQ2 gene in only one family (Family I). The pattern of inheritance in all four families with idiopathic generalized epilepsy syndrome seems to be similar. It could either be inherited in recessive mode or a dominant mode with a low penetrance.
CONCLUSIONS: As a conclusion, in order to assess the KCNQ2 mutation profile of the Turkish population, a large study aimed at screening both idiopathic generalized epilepsy patients and healthy subjects seems necessary.
[Supported by: Marmara University Research Foundation, number: 49/060700]