Clinical genetics
A Case of CACNA1I-Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum.
Ryo Sugiyama, Takashi Saito, Hiroyuki Maki, Noriko Sato, Masamune Sakamoto, Naomichi Matsumoto, Yuji Takahashi, Hidehiro Mizusawa, Hirofumi Komaki
Published: 202510.1111/cge.70098
Abstract
Recently, gain- or loss-of-function variants in the calcium voltage-gated channel subunit alpha1I gene (CACNA1I) have been shown to cause neurodevelopmental disorders. As only 10 cases have been reported to date, clinical information remains limited.…
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