ICNC Abstracts, ICNC 2018

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The latest finding of genetic testing in Chinese patients with unexplained Epileptic encephalopathy(EE)
Sun Dan

Last modified: 2018-09-09

Abstract


Epileptic encephalopathy (EE) refers to severe often intractable seizure disorders where seizure-onset contributes to a progrossive disturbance in brain function.There are various causes of EE and genetic factors play a major role in the etiology.With the molecular revolution,the number of known monogenic determinants underlying the EE has grown rapidly.Whole exome sequencing (WES) was performed on 56 Chinese patients with unexplained EE to screen gene mutations.In this study,WES showed a high diagnostic yield (28%) in Chinese patients with unexplained EIEE,as well as enriching the EIEE mutation spectrum bank.

Keywords


Epileptic encephalopathy;Genetic testing

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