Mutations in PKHD1L1 Cause FCMTE in Chinese Families via Excitation of PKA Activity in Cortex (S29.005)

作者：Peimin Yu, Yue Wang, Lan Xu, Yan Ge, Li X, Kai Qiao, Ding Ding, Gouxing Zhu, Zhen Hong · 发表于：Neurology · 年份：2026 · DOI：10.1212/wnl.0000000000216908 · 研究领域：Genetic Syndromes and Imprinting、Genomic variations and chromosomal abnormalities、Genomics and Rare Diseases

To identify the causative mutation for FCMTE in families and to investigate the impact of PKHD1L1 mutation on cortical excitability and its potential mechanism.