Noh Grace J, Jane Tavyev Asher Y, Graham John M
Clinical Genetics and Dysmorphology, Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA.
Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25.
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.
癫痫发作是临床遗传学评估中常见的表现。癫痫发作原因的鉴别诊断非常多样且复杂，超过半数的癫痫病例被认为是由遗传因素导致的。鉴于此类评估的复杂性，我们重点介绍遗传性癫痫性脑病的常见病因，并强调近期技术进展的实用性。本综述的目的是为临床遗传学家评估和咨询遗传性癫痫性脑病患者提供实用指南。除了特定的癫痫发作表型（其中许多对抗癫痫药物难治）外，还将讨论常见综合征。按病因分类，我们概述婴儿癫痫性脑病、离子通道病、综合征性、代谢性和染色体疾病的常见病因。对于每种情况，我们将概述诊断评估并讨论应考虑的有效治疗策略。
