Neuronal KCNQ potassium channels: physislogy and role in disease

TJ Jentsch - Nature Reviews Neuroscience, 2000 - nature.com
Humans have over 70 potassium channel genes, but only some of these have been linked
to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations …

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

AE Shearer, AP DeLuca… - Proceedings of the …, 2010 - National Acad Sciences
The extreme genetic heterogeneity of nonsyndromic hearing loss (NSHL) makes genetic
diagnosis expensive and time consuming using available methods. To assess the feasibility …

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

NA Singh, P Westenskow, C Charlier, C Pappas… - Brain, 2003 - academic.oup.com
Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant generalized
epilepsy of the newborn infant. Seizures occur repeatedly in the first days of life and remit by …

Autosomal dominant non-syndromic hearing loss (DFNA): a comprehensive narrative review

M Aldè, G Cantarella, D Zanetti, L Pignataro… - Biomedicines, 2023 - mdpi.com
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 …

Functional significance of channels and transporters expressed in the inner ear and kidney

F Lang, V Vallon, M Knipper… - American Journal of …, 2007 - journals.physiology.org
A number of ion channels and transporters are expressed in both the inner ear and kidney.
In the inner ear, K+ cycling and endolymphatic K+, Na+, Ca2+, and pH homeostasis are …

The contribution of genes involved in potassium‐recycling in the inner ear to noise‐induced hearing loss

L Van Laer, PI Carlsson, N Ottschytsch… - Human …, 2006 - Wiley Online Library
Noise‐induced hearing loss (NIHL) is one of the most important occupational diseases and,
after presbyacusis, the most frequent cause of hearing loss. NIHL is a complex disease …

KV7 channelopathies

S Maljevic, TV Wuttke, G Seebohm… - Pflügers Archiv-European …, 2010 - Springer
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 …

KCNQ4: a gene for age‐related hearing impairment?

E Van Eyken, L Van Laer, E Fransen… - Human …, 2006 - Wiley Online Library
Age‐related hearing impairment (ARHI) is the most common sensory impairment among the
elderly. It is a complex disorder influenced by genetic as well as environmental factors …

Deafness in the genomics era

AE Shearer, MS Hildebrand, CM Sloan, RJH Smith - Hearing research, 2011 - Elsevier
Our understanding of hereditary hearing loss has greatly improved since the discovery of the
first human deafness gene. These discoveries have only accelerated due to the great strides …

Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2

KW Beisel, NC Nelson, DC Delimont, B Fritzsch - Molecular brain research, 2000 - Elsevier
Mutations in the human KCNQ4 gene were recently found by Kubisch et al.[Cell 96 (1999)
437–446] to cause a non-syndromic, autosomal dominant, progressive hearing loss …