Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

ABSTRACT: Research in genetics of epilepsy represents an area of great interest both for clinical purposes and for understanding the basic mechanisms of epilepsy. Most mutations in epilepsies without structural brain abnormalities have been identified in ion channel genes, but an increasing number of genes involved in a diversity of functional and developmental processes are being recognized through whole exome or genome sequencing. Targeted molecular diagnosis is now available for different forms of epilepsy. The identification of epileptogenic mutations in patients before epilepsy onset and the possibility of developing therapeutic strategies tested in experimental models may facilitate experimental approaches that prevent epilepsy or decrease its severity. Functional analysis is essential for bet

SUBMITTER: Guerrini R 

PROVIDER: S-EPMC3996114 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature