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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Библиографические подробности

Главные авторы:	Zhi Yi, Zhenfeng Song, Jiao Xue, Chengqing Yang, Fei Li, Hua Pan, Xuan Feng, Ying Zhang, Hong Pan
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2022-10-01
Серии:	BMC Medical Genomics
Предметы:	YWHAG Developmental and epileptic encephalopathy 56 Intellectual disability Early-onset seizures
Online-ссылка:	https://doi.org/10.1186/s12920-022-01377-8
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