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.
· Frontiers in Medicine · 0 citations