The neurodevelopmental spectrum seen with CHD2 variants  

作　　者：Alice G Willison Rhys H Thomas 

机构地区：[1]Faculty of Medical Sciences,Translational and Clinical Research Institute,Newcastle University,Newcastle,UK [2]Royal Victoria Infirmary,Newcastle Upon Tyne NHS Foundation Trust,Newcastle,UK

出　　处：《Pediatric Investigation》2022年第2期147-148,共2页儿科学研究（英文）

摘　　要：There are many self evident truths when it comes to genetic testing in epilepsies:classifying epilepsy and idenifying the co-morbidities helps you pick the right panel;sending the test increases your chance of making that diagnosis;increased panel testing broadens the phenotype.The series of children with chromodomain helicase DNA-binding protein 2(CHD2)variants reported by Feng et al.1 are notable for a number of important reasons,including confirmation of another CHD2 family.

关 键 词：EPILEPSY DIAGNOSIS TESTING 

分 类 号：R338[医药卫生—人体生理学]