Transcriptional features of low-grade neuroepithelial tumors with the BRAF V600E mutation associated with epileptogenicity

Keiya Iijima, Kanako Komatsu, Satoshi Miyashita, Kyoka Suyama, Kumiko Murayama, Koichi Hashizume, Nao K. Tabe, Hajime Miyata, Masaki Iwasaki, Shinichiro Taya, Mikio Hoshino

Research output: Contribution to journalArticlepeer-review


Low-grade neuroepithelial tumors are major causes of drug-resistant focal epilepsy. Clinically, these tumors are defined as low-grade epilepsy-associated neuroepithelial tumors (LEATs). The BRAF V600E mutation is frequently observed in LEAT and linked to poor seizure outcomes. However, its molecular role in epileptogenicity remains elusive. To understand the molecular mechanism underlying the epileptogenicity in LEAT with the BRAF V600E genetic mutation (BRAF V600E-LEAT), we conducted RNA sequencing (RNA-seq) analysis using surgical specimens of BRAF V600E-LEAT obtained and stored at a single institute. We obtained 21 BRAF V600E-LEAT specimens and 4 control specimens, including 24 from Japanese patients and 1 from a patient of Central Asian origin, along with comprehensive clinical data. We submitted the transcriptome dataset of 21 BRAF V600E-LEAT plus 4 controls, as well as detailed clinical information, to a public database. Preliminary bioinformatics analysis using this dataset identified 2134 differentially expressed genes between BRAF V600E-LEAT and control. Additionally, gene set enrichment analysis provided novel insights into the association between estrogen response-related pathways and the epileptogenicity of BRAF V600E-LEAT patients. Our datasets and findings will contribute toward the understanding of the pathology of epilepsy caused by LEAT and the identification of new therapeutic targets.

Original languageEnglish
Pages (from-to)192-206
Number of pages15
JournalGenes to Cells
Issue number3
Publication statusPublished - 03-2024

All Science Journal Classification (ASJC) codes

  • Genetics
  • Cell Biology


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