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Review
. 2025 Feb:163:35-44.
doi: 10.1016/j.pediatrneurol.2024.10.018. Epub 2024 Nov 15.

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review

Qinrui Li  1 , Zhao Xu  1 , Jiong Qin  2 , Zhixian Yang  3
Affiliations
Review

Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review

Qinrui Li et al. Pediatr Neurol. 2025 Feb.

Abstract

Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.

Methods: We collected data from pediatric patients followed in Peking University People's Hospital from July 2018 to April 2024.

Results: Thirteen children harboring PTEN variants were identified (mean age, 4.1 years). All the children (100%) with PTEN variants exhibited macrocephaly, 92.3% (12 of 13) had developmental delays, and 38.5% (five of 13) were diagnosed with autism spectrum disorder. Among the 13 children, 15.4% (two of 13) had epilepsy, and both responded well to antiseizure medications. Furthermore, we reviewed published articles on PTEN variants and epilepsy. We found seven studies of 665 pediatric patients with PTEN variants, including 26 patients with epilepsy. Among the 26 epileptic patients, information about the number and response to antiseizure medications was available for only 14 patients, and 15 patients had information about seizure types. Focal seizures were the most common seizure type (10 of 15, 66.7%). Only 28.6% (four of 14) of patients were diagnosed with drug-resistant epilepsy, and all patients (four of four) had abnormal brain magnetic resonance imaging findings.

Conclusions: In summary, a high proportion of pediatric patients with PTEN variants have developmental delay. Among epileptic patients, the most common seizure type is focal seizures, and these patients are more likely to respond to antiseizure medications if their brain imaging results are normal. Further large-scale studies are necessary to characterize the clinical characteristics of pediatric patients with epilepsy harboring PTEN variants and establish standard treatments.

Keywords: Autism spectrum disorder (ASD); Developmental delay; Epilepsy; Phosphatase and tensin homolog (PTEN).

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Conflict of interest statement

Declaration of competing interest None of the authors have any conflicts of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.