De Novo and Inherited SETD1A Variants in Early-onset Epilepsy
Abstract
Early-onset epilepsy is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain, and the genetic causes of idiopathic seizures have been extensively investigated. In this study, we identified four missense mutations in the SETD1A gene (SET domain-containing 1A, histone lysine methyltransferase): three de novo...
Paper Details
Title
De Novo and Inherited SETD1A Variants in Early-onset Epilepsy
Published Date
Jun 13, 2019
Journal
Volume
35
Issue
6
Pages
1045 - 1057
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