Article

Phenotypic Spectrum and Long-term Outcome in Children With Genetic Causes of Early-onset Epileptic Encephalopathy

2021-03-11

Abstract excerpt

<h4>Background: </h4> To explore the clinical phenotype and long-term outcome in children with genetic causes of early-onset epileptic encephalopathies. <h4>Methods: </h4> The clinical data of 118 children between 2010 and 2020 was obtained and analyzed. The whole exome sequencing and copy number variation studies in family were used to find pathogenic mutations. The confirmed mutations were verified by Sanger seq...

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Literature Corpus work: 3a7faf59-271c-572e-80df-a2502617936b
DOI: 10.21203/rs.3.rs-257334/v1

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