Article
Phenotypic spectrum and long-term outcome of children with genetic early-infantile-onset developmental and epileptic encephalopathy.
Epileptic disorders : international epilepsy journal with videotape - 1 Apr 2022
Hu Chunhui, Liu Deying, Luo Tian, Wang Yi, Liu Zhisheng
Abstract excerpt
OBJECTIVE: Developmental and epileptic encephalopathy (DEE) is characterized by refractory seizures, developmental delay or intellectual disability, which may be caused by gene mutation. In this study, we explored the clinical phenotype and long-term outcome in children with genetic early-infantile-onset DEEs. METHODS: Next-generation sequencing was performed on 470 patients diagnosed with early-infantile-onset...
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