外显子组测序
医学
基因检测
癫痫
基因组学
DNA测序
儿科
重症监护医学
精神科
基因组
遗传学
生物
表型
基因
内科学
DNA
作者
Luke Daniel Perry,Sarah Hogg,Sarah Bowdin,Gautam Ambegaonkar,Alasdair Parker
出处
期刊:Archives of Disease in Childhood-education and Practice Edition
[BMJ]
日期:2021-01-07
卷期号:: edpract-320606
被引量:1
标识
DOI:10.1136/archdischild-2020-320606
摘要
The investigation of children presenting with infantile and childhood epileptic encephalopathies (ICEE) is challenging due to diverse aetiologies, overlapping phenotypes and the relatively low diagnostic yield of MRI, electroencephalography (EEG) and biochemical investigations. Careful history and thorough examination remain essential as these may identify an acquired cause or indicate more targeted investigation for a genetic disorder. Whole exome sequencing (WES) with analysis of a panel of candidate epilepsy genes has increased the diagnostic yield. Whole genome sequencing (WGS), particularly as a trio with both parents' DNA, is likely to supersede WES. Modern genomic investigation impacts on the timing and necessity of other testing. We propose a structured approach for children presenting with ICEE where there is diagnostic uncertainty, emphasising the importance of WGS or, if unavailable, WES early in the investigative process. We note the importance of expert review of all investigations, including radiology, neurophysiology and biochemistry, to confirm the technique used was appropriate as well as the results. It is essential to counsel families on the risks associated with the procedures, the yield of the procedures, findings that are difficult to interpret and implication of 'negative' results. Where children remain without a diagnosis despite comprehensive investigation, we note the importance of ongoing multidisciplinary care.
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