Article

Novel Mutation of SIK1 Gene Causing a Mild Form of Pediatric Epilepsy in a Chinese Family

2021-11-22

Abstract excerpt

<title>Abstract</title> <p><bold>Objective: </bold>Early infantile epileptic encephalopathy (EIEE) is a group of disorders affecting children at early stages of infancy, which is characterized by frequent seizures, epileptiform activity on EEG, and developmental retardation or regression. Salt-inducible kinases (SIKs) syndrome is a newly described EIEE, caused by heterozygous mutations in the salt-inducible kinas...

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Literature Corpus work: 45d2e022-e8e9-5598-a1b0-a5013cb105c4
DOI: 10.21203/rs.3.rs-1057581/v1

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