Article

Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencing

2026-08-06

Abstract excerpt

Background: Pediatric seizure disorders are clinically and genetically heterogeneous. Whole-exome sequencing has improved the detection of rare genetic variants in childhood epilepsy; however, data from pediatric populations in Southeast China remain limited. This study aimed to characterize the genetic landscape of pediatric seizure disorders in Southeast China and to evaluate the clinical diagnostic yield of who...

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Literature Corpus work: d69d33f3-c12b-5cea-89fa-f11ccba55578
DOI: 10.1097/ms9.0000000000005448

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Genetic landscape of pediatric seizures in Southeast China: identification of a novel GLI3 frameshift variant through whole-exome sequencingDOI 10.1097/ms9.0000000000005448Read

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