A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes of these changes. De novo variants in an...

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Bibliographic Details
Main Authors: Zhi Yi, Zhenfeng Song, Jiao Xue, Chengqing Yang, Fei Li, Hua Pan, Xuan Feng, Ying Zhang, Hong Pan
Format: Article
Language:English
Published: BMC 2022-10-01
Series:BMC Medical Genomics
Subjects:
YWHAG
Developmental and epileptic encephalopathy 56
Intellectual disability
Early-onset seizures
Online Access:https://doi.org/10.1186/s12920-022-01377-8

Internet

https://doi.org/10.1186/s12920-022-01377-8

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