Author

Xian-Ru Jiao

2 papers indexed here

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Sep 2026

Electro-Clinical Features of Patients With Myoclonic-Tonic Seizures.

BACKGROUND Myoclonic-tonic (MT) seizures are characterized by a preceding period of myoclonus followed closely by the occurrence of tonic seizures. The objective of this study was to dissect the electro-clinical features of patients with MT seizures. METHODS We conducted a retrospective analysis of patients with MT s...

Zong-Pu Zhou, Yue Niu, Zhao Xu et al. · Pediatric Neurology · 0 citations

Review Open access Sep 2026

Inheritance-dependent genotype–phenotype architecture in DEAF1-associated neurodevelopmental disorders: five unrelated patients with de novo DEAF1 variants and an updated synthesis of 67 individuals

The study refines the de novo clinical and allelic spectrum of DAND and delineates inheritance-specific genotype–phenotype architecture with developmental and cellular context and supported brain-enriched, developmentally regulated DEAF1 expression and broad neuronal/progenitor expression in human brain organoids.

Ang Ma, Gen-Fu Zhang, Yue Niu et al. · Orphanet Journal of Rare Dis... · 0 citations