Gene expression, genetics, and genomics in epilepsy: Some answers, more questions

被引:22
|
作者
Crino, Peter B.
机构
[1] Univ Penn, Med Ctr, Dept Neurol, Philadelphia, PA 19104 USA
[2] Univ Penn, Med Ctr, PENN Epilepsy Ctr, Philadelphia, PA 19104 USA
关键词
mRNA; cortical dysplasia; SNP; epilepsy mutation; transcription;
D O I
10.1111/j.1528-1167.2007.01066.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The rapid technical progress made in molecular genetics has provided new strategies to study the molecular pathogenesis of human epilepsy In particular, the abilities to assay the expression of many thousands of genes simultaneously with cDNA or oligonucleotide arrays and to rapidly screen thousands of DNA basepairs permits exciting insights into how human epilepsy may result from alterations in gene transcription and sequence. These approaches can show how monogenic and even complex genetic disorders lead to network alterations and seizures. Most recently, investigation of single nucleotide polymorphisms (SNPs) has shown that even subtle alterations in gene sequence across the genome can raise or lower seizure threshold. Clearly, there is a complex interplay between gene expression, genetics, and genomics which ultimately leads to seizure onset and epilepsy. Identifying the contribution that each plays in epileptogenesis may help define new therapeutic targets.
引用
收藏
页码:42 / 50
页数:9
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