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Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review
Qinrui Li1, Zhao Xu1, Jiong Qin1
1Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China.
Insights
Pediatric patients with phosphatase and tensin homolog (PTEN) variants often experience developmental delays. Epilepsy in these children, primarily focal seizures, generally responds well to medication, especially with normal brain imaging.
Area of Science:
- Pediatric Neurology
- Genetics
- Epilepsy Research
Background:
- Epilepsy is uncommon in pediatric patients with phosphatase and tensin homolog (PTEN) variants.
- Characteristics of epilepsy, medication response, and prognosis in these patients are not fully understood.
Purpose of the Study:
- To elucidate the characteristics of epilepsy in pediatric patients with PTEN variants.
- To understand the developmental outcomes in pediatric patients with PTEN variants.
Main Methods:
- Data collected from pediatric patients at Peking University People's Hospital (July 2018–April 2024).
- Review of published literature on PTEN variants and epilepsy.
Main Results:
- 13 pediatric patients with PTEN variants identified; 15.4% had epilepsy, responding well to antiseizure medications.
- Focal seizures were the most common type (66.7%) among 26 epileptic patients from literature review.
- Drug-resistant epilepsy was noted in 28.6% of patients with available data.
Conclusions:
- Pediatric patients with PTEN variants have a high rate of developmental delay.
- Focal epilepsy is common in this cohort, with good medication response often linked to normal brain imaging.
- Further large-scale studies are needed to characterize epilepsy in pediatric PTEN variant patients and standardize treatments.
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.
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