Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations

Abstract Background Early infantile epileptic encephalopathy (EIEE) is a group of highly heterogeneous diseases, both phenotypically and genetically. Usually, it starts early on and manifests as intractable epilepsy, abnormal electroencephalogram, and growth retardation/intellectual impairment. With...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang Deng
Format:	Article
Language:	English
Published:	Wiley 2023-12-01
Subjects:	early infantile epileptic encephalopathy next‐generation sequencing SCN1A UGDH
Online Access:	https://doi.org/10.1002/mgg3.2269