Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in t...

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Bibliographic Details
Main Authors:	Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko, Beom Hee Lee
Format:	Article
Language:	English
Published:	MDPI AG 2020-11-01
Series:	Journal of Clinical Medicine
Subjects:	whole exome sequencing rare genetic diseases neurogenetic disorders congenital myasthenic syndrome autosomal recessive dopa-responsive dystonia epileptic encephalopathy 47
Online Access:	https://www.mdpi.com/2077-0383/9/11/3724

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