Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

KV 7 voltage-gated potassium channels, encoded by the KCNQ gene family, have caught
increasing interest of the scientific community for their important physiological roles, which …

Mutations inactivating the potassium channel KCNQ4 (Kv7. 4) lead to deafness in humans
and mice. In addition to its expression in mechanosensitive hair cells of the inner ear …

Abstract Kv7. 1-Kv7. 5 (KCNQ1–5) K+ channels are voltage-gated K+ channels with major
roles in neurons, muscle cells and epithelia where they underlie physiologically important …

The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by
unbiased population-based genetic screening, 2) clarify the mutation spectrum and …

Abstract KCNQ2 (Kv7. 2) and KCNQ3 (Kv7. 3) K+ channels dampen neuronal excitability
and their functional impairment may lead to epilepsy. Less is known about KCNQ5 (Kv7. 5) …

Clinical exome sequencing has yielded extensive disease-related missense single-
nucleotide variants (SNVs) of uncertain significance, leading to diagnostic uncertainty …

M channels, an important regulator of neural excitability, are composed of four subunits of
the Kv7 (KCNQ) K+ channel family. M channels were named as such because their activity …

Deafness-associated genes KCNQ1 (also associated with heart diseases) and KCNQ4 (only
associated with hearing loss) encode the homotetrameric voltage-gated potassium ion …