Clinical and molecular genetic analysis of a multigenerational pedigree with generalized epilepsy with febrile seizures plus / 中华神经科杂志
Chinese Journal of Neurology
;
(12)2005.
Article
Dans Chinois
| WPRIM
| ID: wpr-676483
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
Chinese Journal of Neurology
Année:
2005
Type:
Article
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