Myoclonin1 haploinsufficiency in motile ciliated cells partially recapitulates epileptic features of Efhc1-deficient mice in adult age

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DOI:10.1016/j.mcn.2026.104095
文献类型：期刊论文
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Elsevier

Abstract：Mutations in the EFHC1 (EF–hand domain containing 1) gene, which encodes myoclonin1, a homolog of the Chlamydomonas axonemal protein Rib72, have been identified in patients with epilepsies i

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