Hussain Shaun A
Continuum (Minneap Minn). 2018 Feb;24(1, Child Neurology):171-185. doi: 10.1212/CON.0000000000000558.
This article reviews the manifestations and treatment of the epileptic encephalopathies, which are a heterogeneous group of disorders characterized by both seizures and neurocognitive impairment.
Next-generation (exome- and genome-based) sequencing technologies are revolutionizing the identification of single-gene causes of epileptic encephalopathy but have only had a modest impact on patient-specific treatment decisions. The treatment of most forms of epileptic encephalopathy remains a particularly challenging endeavor, with therapeutic decisions chiefly driven by the electroclinical syndrome classification. Most antiseizure drugs are ineffective in the treatment of these disorders, and treatments that are effective often entail significant risk and cost.
The epileptic encephalopathies continue to pose a major challenge in diagnosis and treatment, with most patients experiencing very poor outcomes, although a significant minority of patients respond to, or are even cured by, specific therapies.
本文综述癫痫性脑病的临床表现及治疗，癫痫性脑病是一组异质性疾病，其特征为癫痫发作和神经认知障碍。
新一代（基于外显子组和基因组）测序技术正在彻底改变癫痫性脑病单基因病因的识别，但对针对患者的治疗决策影响不大。大多数类型的癫痫性脑病的治疗仍然是一项特别具有挑战性的工作，治疗决策主要由电临床综合征分类驱动。大多数抗癫痫药物对这些疾病的治疗无效，有效的治疗方法往往伴随着重大风险和高昂成本。
癫痫性脑病在诊断和治疗方面仍然是一个重大挑战，大多数患者预后很差，尽管有少数患者对特定治疗有反应甚至被治愈。
