Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 300-306 |
| Number of pages | 7 |
| Journal | Trends in Molecular Medicine |
| Volume | 9 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - Jul 1 2003 |
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ASJC Scopus subject areas
- Medicine(all)
Cite this
The genetic and molecular basis of epilepsy. / Guerrini, Renzo; Casari, Giorgio; Marini, Carla.
In: Trends in Molecular Medicine, Vol. 9, No. 7, 01.07.2003, p. 300-306.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The genetic and molecular basis of epilepsy
AU - Guerrini, Renzo
AU - Casari, Giorgio
AU - Marini, Carla
PY - 2003/7/1
Y1 - 2003/7/1
N2 - 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.
AB - 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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UR - http://www.scopus.com/inward/citedby.url?scp=0041926619&partnerID=8YFLogxK
U2 - 10.1016/S1471-4914(03)00116-3
DO - 10.1016/S1471-4914(03)00116-3
M3 - Article
C2 - 12900217
AN - SCOPUS:0041926619
VL - 9
SP - 300
EP - 306
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
SN - 1471-4914
IS - 7
ER -