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KCNQ4
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
KCNQ4
gene.
Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. 1999 Jul;8(7):1321-8.
PubMed citation
Entrez
Gene
Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review.
PubMed citation
Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation. J Hum Genet. 2006;51(5):455-60. Epub 2006 Apr 5.
PubMed citation
Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell. 1999 Feb 5;96(3):437-46.
PubMed citation
OMIM:
POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER
4
Wangemann P. K(+) cycling and its regulation in the cochlea and the vestibular labyrinth. Audiol Neurootol. 2002 Jul-Aug;7(4):199-205.
PubMed citation
Willems PJ. Genetic causes of hearing loss. N Engl J Med. 2000 Apr 13;342(15):1101-9. Review.
PubMed citation
Reviewed: November 2006
Published: June 17, 2013