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Author

Can-Bo Tang

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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