Clinical review of genetic epileptic encephalopathies
- 作者：Grace J. Noh ; Y. Jane Tavyev Asher ; John M. Graham Jr. ; john.graham@cshs.org
- 关键词：Epilepsy ; Dravet syndrome ; Rett syndrome ; Infantile spasms ; West syndrome ; Ohtahara syndrome
- 刊名：European Journal of Medical Genetics
- 出版年：2012
- 期刊代码：118_17697212
- 类别：med
- 出版时间：May, 2012
- 卷：55
- 期：5
- 页码：281-298
- 文件大小：1538 K
摘要
Seizures are a frequently encountered finding in patients seen for clinical genetics evaluations. The differential diagnosis for the cause of seizures is quite diverse and complex, and more than half of all epilepsies have been attributed to a genetic cause. Given the complexity of such evaluations, we highlight the more common causes of genetic epileptic encephalopathies and emphasize the usefulness of recent technological advances. The purpose of this review is to serve as a practical guide for clinical geneticists in the evaluation and counseling of patients with genetic epileptic encephalopathies. Common syndromes will be discussed, in addition to specific seizure phenotypes, many of which are refractory to anti-epileptic agents. Divided by etiology, we overview the more common causes of infantile epileptic encephalopathies, channelopathies, syndromic, metabolic, and chromosomal entities. For each condition, we will outline the diagnostic evaluation and discuss effective treatment strategies that should be considered.