Multiple phenotypic traits including developmental impairment in a Chinese family with infantile convulsion and choreoathetosis syndrome: a case study expanding the clinical spectrum of prrt2-related syndrome
BMC Pediatr. 2025 Oct 6;25(1):769. doi: 10.1186/s12887-025-06180-9. ABSTRACT BACKGROUND: Pathogenic heterozygous variants in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been recently identified …