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Research paper

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

In a pediatric PTEN cohort (n=13), 100% had macrocephaly, 92% DD, 38% ASD, 15% epilepsy. Pooled data across seven studies (665 pediatric PTEN patients, 26 with epilepsy) show focal seizures are most common, and drug-resistant epilepsy is tightly associated with abnormal brain MRI.

Indexed context

Li, et al.

ptenphtspediatric-epilepsymacrocephaly

Markdown path

content/research/papers/2024-li-pten-pediatric-cohort.md

Findings

In a pediatric PTEN cohort (n=13), 100% had macrocephaly, 92% DD, 38% ASD, 15% epilepsy. Pooled data across seven studies (665 pediatric PTEN patients, 26 with epilepsy) show focal seizures are most common, and drug-resistant epilepsy is tightly associated with abnormal brain MRI.

Why it may matter for Levi

Supports PTEN testing in any child with macrocephaly + DD/ASD; places Levi's phenotype squarely in the PTEN-PHTS relevant population even without classic dysmorphism. Frames the MRI-abnormal subset as the drug-resistant epilepsy subset, reinforcing the case for a focused neuroradiology re-read.

Paper text

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

Li, et al. — Pediatric Neurology (2024). https://www.sciencedirect.com/science/article/abs/pii/S088789942400376X

Findings summary

In a pediatric PTEN cohort (n=13), 100% had macrocephaly, 92% DD, 38% ASD, 15% epilepsy. Pooled data across seven studies (665 pediatric PTEN patients, 26 with epilepsy) show focal seizures are most common, and drug-resistant epilepsy is tightly associated with abnormal brain MRI.

Relevance to Levi

Supports PTEN testing in any child with macrocephaly + DD/ASD; places Levi's phenotype squarely in the PTEN-PHTS relevant population even without classic dysmorphism. Frames the MRI-abnormal subset as the drug-resistant epilepsy subset, reinforcing the case for a focused neuroradiology re-read.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
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