New variants and genotype-phenotype correlation of <i>PPP3CA</i>-related developmental and epileptic encephalopathy.

ABSTRACT:

Objective

To explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).

Methods

whole-exome sequencing or whole-genome sequencing was performed to all patients. Clinical data of 15 epilepsy patients in current study and 21 epilepsy patients from published studies were collected and analyzed.

Results

In this study, 15 patients were identified with 13 de novo PPP3CA variants. Among these, seven frameshift variants and one gene inversion between intron 11 and intron 13 (including exons 12 and 13) were novel. 80% of patients experiencing seizure onset before the age of one. The seizure types observed included epileptic spasms (93.3%), tonic seizures (46.7%), myoclonic seizu

SUBMITTER: Wang T 

PROVIDER: S-EPMC12179222 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature