Identification of four biotypes in temporal lobe epilepsy via machine learning on brain images

Yuchao Jiang (), Wei Li, Jinmei Li, Xiuli Li, Heng Zhang, Xiutian Sima, Luying Li, Kang Wang, Qifu Li, Jiajia Fang, Lu Jin, Qiyong Gong, Dezhong Yao, Dong Zhou (), Cheng Luo () and Dongmei An ()
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Yuchao Jiang: Fudan University
Wei Li: Sichuan University
Jinmei Li: Sichuan University
Xiuli Li: Sichuan University
Heng Zhang: Sichuan University
Xiutian Sima: Sichuan University
Luying Li: Sichuan University
Kang Wang: Zhejiang University
Qifu Li: Hainan Medical University and the Key Laboratory of Brain Science Research and Transformation in Tropical Environment of Hainan Province
Jiajia Fang: Zhejiang University
Lu Jin: The First Affiliated Hospital of Xinjiang Medical University
Qiyong Gong: Sichuan University
Dezhong Yao: University of Electronic Science and Technology of China
Dong Zhou: Sichuan University
Cheng Luo: University of Electronic Science and Technology of China
Dongmei An: Sichuan University

Nature Communications, 2024, vol. 15, issue 1, 1-12

Abstract: Abstract Artificial intelligence provides an opportunity to try to redefine disease subtypes based on similar pathobiology. Using a machine-learning algorithm (Subtype and Stage Inference) with cross-sectional MRI from 296 individuals with focal epilepsy originating from the temporal lobe (TLE) and 91 healthy controls, we show phenotypic heterogeneity in the pathophysiological progression of TLE. This study was registered in the Chinese Clinical Trials Registry (number: ChiCTR2200062562). We identify two hippocampus-predominant phenotypes, characterized by atrophy beginning in the left or right hippocampus; a third cortex-predominant phenotype, characterized by hippocampus atrophy after the neocortex; and a fourth phenotype without atrophy but amygdala enlargement. These four subtypes are replicated in the independent validation cohort (109 individuals). These subtypes show differences in neuroanatomical signature, disease progression and epilepsy characteristics. Five-year follow-up observations of these individuals reveal differential seizure outcomes among subtypes, indicating that specific subtypes may benefit from temporal surgery or pharmacological treatment. These findings suggest a diverse pathobiological basis underlying focal epilepsy that potentially yields to stratification and prognostication – a necessary step for precise medicine.

Date: 2024
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DOI: 10.1038/s41467-024-46629-6

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