Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders.

Abstract excerpt

BACKGROUND/OBJECTIVES: As a global chromatin organizer, SATB1 is increasingly implicated in neurodevelopmental disorders (NDDs). This study aims to delineate the clinical and molecular characteristics of a novel de novo SATB1 variant in a patient presenting with epilepsy-dominant NDDs phenotypes. METHODS: Triggered by the onset of seizures, trio-based whole-exome sequencing (Trio-WES) was performed to identify...

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