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Author

Juan Pan

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Open access Jul 2026

Prenatal diagnosis of a fetus with agenesis of the corpus callosum and congenital heart disease due to a non-frameshift deletion variant in SMARCA4

The genetic etiology of ACC in the fetus is identified, a novel in-frame variant in SMARCA4 is detected, and the spectrum of SMARCA4 variants are enriched, contributing to further understanding of the phenotype of CSS, and the significance of genetic screening in prenatal diagnosis is shown.

Ruo-Bing Li, Jianqiao Peng, Qiong Zhou et al. · 0 citations
Open access Jul 2026

A novel CACNA1E mutation (c.1256G > A) was identified in a Chinese patient with epilepsy and congenital heart disease

A Chinese pediatric patient with epilepsy and congenital heart disease who carries a novel CACNA1E variant that lies in a highly conserved and intolerant region provides a potential treatment clue for ACTH responsiveness in CACNA1E-related spasms.

Juan Pan, Mei-Fang Zhao, Zhaochuan Liu et al. · 0 citations

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