Despite the availability of over 30 antiseizure medications (ASMs), there is no “one size fits it
all,” so there is a continuing search for novel ASMs. There are divergent data demonstrating …

Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if
rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of …

Molecular diagnostics, the use of diagnostic testing to understand the molecular
mechanisms of an individual patient's disease, will be pivotal in the delivery of safe and …

Personalized neurology is the application of principles of personalized medicine to improve
the efficacy and reduce the adverse effects of various therapies. Besides genomic …

Severe myoclonic epilepsy in infants, also known as Dravet syndrome, is a rare refractory
form of epilepsy and its control requires a combination of several antiepileptic drugs. We …

Molecular diagnostics, the use of diagnostic testing to understand the molecular
mechanisms of an individual patient's disease, will be pivotal in the delivery of safe and …

The general principles of personalized medicine apply to neurological disorders and this
may be referred to as personalized neurology (Jain 2005). Role of omics in the development …

This chapter is an introduction to and an overview of neurogenomics—an analysis of genes
in the nervous system and their application for diagnosis as well as potential therapeutics of …

目的分析研究Dravet 综合征的临床和分子遗传学特点, 以期提高对本病的早期诊断.
方法总结分析3 例临床疑似Dravet 综合征患儿的临床资料, 辅助检查特点, 应用NGS …