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Article

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants

12 Sept 2022

Abstract excerpt

Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only associated with hearing loss) encode the homotetrameric voltage-gated potassium ion channels Kv7.1 and Kv7.4, respectively. To date, over 700 KCNQ1 and over 70 KCNQ4 variants have been identified in patients. The vast majority of these variants are inherited dominantly, and their pathogenicity is often explained by...

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PMID: 36140355
DOI: 10.3390/biomedicines10092254

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