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 …
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 …
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 …
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 …
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 …
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 …
after presbyacusis, the most frequent cause of hearing loss. NIHL is a complex disease …
KV7 channelopathies
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 …
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 …
elderly. It is a complex disorder influenced by genetic as well as environmental factors …
Deafness in the genomics era
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 …
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 …
437–446] to cause a non-syndromic, autosomal dominant, progressive hearing loss …