Genetics of Epilepsies —— Special Topic Issue: Molecular Syndromology 2016, Vol. 7, No. 4

----- 癫痫的遗传学

ISBN: 9783318059670 出版年：2016 页码：97 S.Karger

During the past decade, the genetic basis of epilepsy disorders has been substantially elucidated. New genome-wide technologies have enabled screening for small copy number variants as well as for alterations of the DNA base sequence. This technical progress means that clinicians no longer have to hypothesize about defined genetic causes and speculate about variations in a restricted number of genes or diverse chromosomal abnormalities. Furthermore, a lot of lessons have been learned about the genetic architecture of the epilepsies and their pathophysiological principles. However, some important open questions remain. This special issue of Molecular Syndromology addresses diverse and frequent genetic aspects of epileptogenesis without being exhaustive. It makes it clear that genetic diagnostics enable us to clarify the pathophysiologic background. This is a prerequisite for investigating novel therapeutic prospects that will lead to precise approaches with the potential to positively impact the fate of patients.