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.

ABSTRACT:

Background

Pathogenic heterozygous variants in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been recently identified as the major cause of familial infantile convulsion and choreoathetosis syndrome (OMIM#602,066), a spectrum of autosomal dominant paroxysmal neurological disorders, including self-limited infantile epilepsy (SeLIE) and infantile convulsion that can be isolated (IC) or associated with paroxysmal kinesigenic dyskinesia (PKD/IC). Incomplete penetrance of PRRT2 variants and variable phenotypes without developmental impairment have been widely reported in previous studies of this syndrome, but no studies to date have documented global development delay (GDD) with growth retardation (GR) occurred in a family with multiple phenotypes of this syndrome.

SUBMITTER: Wu R 

PROVIDER: S-EPMC12502556 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature