Whole genomic approach in mutation discovery of infantile spasms patients

Whole genomic approach in mutation discovery of infantile spasms patients

Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in early infancy. The genetic backgrounds of IS have been gradually unraveled along with the increased application of next-generation sequencing (NGS). However, to date, only selected genomic regions hav...

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Bibliographic Details
Main Authors: Seungbok Lee, Sesong Jang, Jong-Il Kim, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-07-01
Series:Frontiers in Neurology
Subjects:
infantile spasms
whole-genome sequencing
epilepsy
genetic diagnosis
genomic medicine
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.944905/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2022.944905/full

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