Clinical and molecular genetic analysis of a multigenerational pedigree with generalized epilepsy with febrile seizures plus
- VernacularTitle:全面性癫癎伴热性惊厥附加症的临床与分子遗传学研究
- Author:
Shui-Zhen ZHOU
;
Yi-Qing SONG
;
Chao CHEN
;
Dao-Kai SUN
;
- Publication Type:Journal Article
- Keywords:
Epilepsy;
generalized;
Febrile seizures;
Genetics
- From:
Chinese Journal of Neurology
2005;0(07):-
- CountryChina
- Language:Chinese
-
Abstract:
-2,and T)was detected on exon 11 in the mutational analysis of GABRG2.Our results indicate that genomic variations of GABRG2 are not likely to be substantially involved in the etiology of GEFS+in this family. Conclusion Our study fails to provide evidence supporting a causal relation between the SCN1A,SCN1B, GABRG2 mutation and the etiologic genes in this family,which indicates that GEFS+has with phenotypic and genotypic heterogeneity.
