The genetic and molecular basis of epilepsy

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 languageEnglish
Pages (from-to)300-306
Number of pages7
JournalTrends in Molecular Medicine
Volume9
Issue number7
DOIs
Publication statusPublished - Jul 1 2003

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Molecular Biology
Epilepsy
Genes
Genetic Research
Genetic Heterogeneity
Chromosome Mapping
Ion Channels
Uncertainty
Dissection
Phenotype
Mutation
Pharmaceutical Preparations

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 journalArticle

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