Work

Heterozygous Mutations of PTEN in Macrocephaly Patient With Epilepsy: A Case Report

Year: 2025

Type: article

Abstract: Phosphatase and tensin homolog (PTEN), a tumor suppressor gene, is also associated with neurological phenotypes, including macrocephaly, Cowden syndrome, and autism spectrum disorder. We present a 34-year-old Chinese male who complained of recurrent seizures within one year. His occipital frontal circumference was 62.8 cm. Whole-exon sequencing revealed that he carried a heterozygous missense mutation of NM_000314.4:c.4375C > T (p.Met35Val) in PTEN gene. Therefore, heterozygous mutations of c.103A > G in PTEN may increase the risk of macrocephaly with epilepsy.

Source: Case Reports in Medicine

DOI: 10.1155/carm/5190615

Authors: Lan Wang, Yilin Su, Mingshu Mo

Institution: First Affiliated Hospital of Guangzhou Medical University

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790