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Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report.
- Source :
-
Frontiers in pediatrics [Front Pediatr] 2022 Sep 02; Vol. 10, pp. 931667. Date of Electronic Publication: 2022 Sep 02 (Print Publication: 2022). - Publication Year :
- 2022
-
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.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (Copyright © 2022 Yu, Li, Li, Chen, Wang, Wang, Wang and Yao.)
Details
- Language :
- English
- ISSN :
- 2296-2360
- Volume :
- 10
- Database :
- MEDLINE
- Journal :
- Frontiers in pediatrics
- Publication Type :
- Report
- Accession number :
- 36120649
- Full Text :
- https://doi.org/10.3389/fped.2022.931667