Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate receptor and reduces calcium ions stored in endoplasmic reticulum
Aim: Mutations in the EFHC1 gene have been identified in patients with various epilepsies, including juvenile myoclonic epilepsy (JME). Mice with Efhc1 deficiency also exhibit epileptic phenotypes. The protein myoclonin1, encoded by EFHC1, is not expressed in neurons but in cells with motile cilia,...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Open Exploration Publishing Inc.
2025-07-01
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| coleção: | Exploration of Neuroscience |
| Assuntos: | |
| Acesso em linha: | https://www.explorationpub.com/uploads/Article/A100699/100699.pdf |
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