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The genetic and molecular basis of epilepsy
被引:21
|作者:
Guerrini, R
[1
]
Casari, G
Marini, C
机构:
[1] Univ Pisa, Div Child Neurol & Psychiat, Epilepsy Neurophysiol & Neurogenet Unit, I-56018 Pisa, Italy
[2] IRCCS, Stella Maris Fdn, Res Inst, I-56018 Pisa, Italy
[3] Hosp San Raffaele, Human Mol Genet Unit, I-20132 Milan, Italy
关键词:
D O I:
10.1016/S1471-4914(03)00116-3
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
In the past decade, studies of large families in which epilepsy has been inherited in an autosomal dominant fashion have revealed several mutated genes, most of which encode ion channel subunits. Despite these exciting findings, only a few families with similar phenotypes have mutations in these known genes. More frustrating has been the genetic research into idiopathic epilepsies with complex inheritance. Although these forms are more common than those with Mendelian inheritance, their unknown mode of inheritance, phenotypic heterogeneity and the uncertainty of the genetic overlap among syndrome subtypes have hampered gene mapping. New techniques of molecular analysis could help the dissection of genes for epilepsies with complex inheritance. Hopefully, in the near future, successful genetic studies will make possible the discovery of new and more-targeted anti-epileptic drugs.
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页码:300 / 306
页数:7
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