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Article

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.

Brain : a journal of neurology - 3 Sept 2024

Kim Jintae, Park Sang Min, Koh Hyun Yong, Ko Ara, Kang Hoon-Chul, Chang Won Seok, Kim Dong Seok, Lee Jeong Ho

Abstract excerpt

Somatic mosaicism in a fraction of brain cells causes neurodevelopmental disorders, including childhood intractable epilepsy. However, the threshold for somatic mosaicism leading to brain dysfunction is unknown. In this study, we induced various mosaic burdens in focal cortical dysplasia type II (FCD II) mice, featuring mTOR somatic mosaicism and spontaneous behavioural seizures. The mosaic burdens ranged from...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38916065
DOI: 10.1093/brain/awae190

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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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