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Article

Focal cortical dysplasia II caused by brain somatic mutation of IRS-1 is associated with ERK signaling pathway activation.

Cerebral cortex (New York, N.Y. : 1991) - 4 Jun 2024

Li Xiao, Wang Tianshuang, Liu Nana, Cai Aojie, Zhang Junjiao, Zhang Fan, Liu Qingzhu, Wang Jingmin, Wu Ye, Gao Kai, Jiang Yu-Wu

Abstract excerpt

Somatic mutations have been identified in 10% to 63% of focal cortical dysplasia type II samples, primarily linked to the mTOR pathway. When the causative genetic mutations are not identified, this opens the possibility of discovering new pathogenic genes or pathways that could be contributing to the condition. In our previous study, we identified a novel candidate pathogenic somatic variant of IRS-1 c.1791dupG...

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PMID: 38836287
DOI: 10.1093/cercor/bhae227

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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