Abstract:Objective: 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 kinase SIK1, which can present as early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms. Methods: In this study, we investigat… Show more
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