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Epilepsy protein myoclonin1 interacts with inositol 1,4,5–trisphosphate (IP <sub>3</sub> ) receptor and reduces Ca <sup>2+</sup> store in endoplasmic reticulum

2024-07-04

Abstract excerpt

Mutations of EFHC1 gene have been identified in patients with epilepsies including juvenile myoclonic epilepsy (JME), and mice with Efhc1 deficiency exhibit epileptic phenotypes. Myoclonin1 protein encoded by EFHC1 is not expressed in neurons but in cells with motile cilia including those of choroid plexus and ependymal cells which form an epithelial layer lining brain ventricles. Detailed molecular basis of ep...

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Literature Corpus work
a8b3193d-c243-51a1-844a-66bf55af3b9f
DOI
10.1101/2024.07.01.601633
Open publication

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Epilepsy protein myoclonin1 interacts with inositol 1,4,5–trisphosphate (IP <sub>3</sub> ) receptor and reduces Ca <sup>2+</sup> store in endoplasmic reticulumDOI 10.1101/2024.07.01.601633
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