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Author

F. Fang

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Review Open access Sep 2026

Clinical spectrum and genotype–phenotype correlations of MT-CYB-associated mitochondrial disease: from the m.15045G > A variant to the broader disease landscape

Tissue-specific distribution of MT-CYB variants showed an association with clinical phenotype, while other genetic and functional factors may collectively contribute to phenotypic variability, providing further evidence for the pathogenicity of m.15045G > A.

Zi-Meng He, Tong-Yue Li, Chao-Long Xu et al. · 0 citations
Open access Sep 2026

Magnetoencephalography Source Analysis in Epilepsy-Aphasia Spectrum.

OBJECTIVE Epilepsy-aphasia spectrum (EAS) represents the most common group of childhood epilepsy syndromes, however, the precise source localization of epileptiform discharges remains undetermined. This study aimed to localize and compare the sources of epileptiform discharges across different EAS subtypes using magnet...

Yi-Ran Duan, Yu Jia, Xia-Ting Zhang et al. · 0 citations
Review Open access Aug 2026

Clinical phenotype spectrum and prognostic analysis of DNM1L-related disorders: a single-center cohort study of 18 patients

“hemiconvulsion-hemiplegia-epilepsy syndrome” is identified as a distinct feature and potential prognostic indicator for middle domain variants in DNM1L variants, which are predominantly missense, with the middle domain as a hotspot.

Han Xu, Chao-Long Xu, Ying Zou et al. · 0 citations

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