Article

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

2022-11-24

Abstract excerpt

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels (SACs) allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of SACs with human disease is limited. Here we describe 16 unrelated patients, with severe early onset developmental and epileptic encephalopathy (DEE), int...

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Literature Corpus work: fa083c6c-329c-5e1d-9810-c300d4ac8c77
DOI: 10.1101/2022.11.22.22282283

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