AUTHOR=Yu Ying , Li Cuiyun , Li Wei , Chen Liting , Wang Dan , Wang Jie , Wang Jian , Yao Ruen TITLE=Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report JOURNAL=Frontiers in Pediatrics VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.931667 DOI=10.3389/fped.2022.931667 ISSN=2296-2360 ABSTRACT=

SATB1 variants causing developmental delay with dysmorphic facies and dental anomalies have been reported in a small cohort. Most patients present epilepsy as a main clinical feature in neurodevelopmental disorders; however, its treatment is unknown. Here, we present a Chinese patient with a de novo truncating variation in SATB1 who presented with mild developmental delay. We disclose the detailed anti-epileptic pharmacological treatment that enabled a favorable outcome. Our study provides important information that may aid clinicians in the prognosis and treatment of rare neurological developmental disorders caused by gene mutations.