Gene Review:
KCNA1 - potassium channel, voltage gated shaker...
Homo sapiens
Synonyms:
AEMK, EA1, HBK1, HUK1, KV1.1, ...
- Genetics of familial episodic vertigo and ataxia. Baloh, R.W., Jen, J.C. Ann. N. Y. Acad. Sci. (2002)
- A physical map of the region spanning the chromosome 12 translocation breakpoint in a mesothelioma with a t(X;12)(q22;p13). Aerssens, J., Guo, C., Vermeesch, J., Baens, M., Browne, D., Litt, M., Van Den Berghe, H., Marynen, P. Cytogenet. Cell Genet. (1995)
- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Browne, D.L., Gancher, S.T., Nutt, J.G., Brunt, E.R., Smith, E.A., Kramer, P., Litt, M. Nat. Genet. (1994)
- Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Kinali, M., Jungbluth, H., Eunson, L.H., Sewry, C.A., Manzur, A.Y., Mercuri, E., Hanna, M.G., Muntoni, F. Neuromuscul. Disord. (2004)
- Immunological analysis of cell-associated antigens of Bacillus anthracis. Ezzell, J.W., Abshire, T.G. Infect. Immun. (1988)
- A homeobox gene with potential developmental control function in the meristem of the conifer Picea abies. Sundås-Larsson, A., Svenson, M., Liao, H., Engström, P. Proc. Natl. Acad. Sci. U.S.A. (1998)
- Expression and chromosomal localization of a lymphocyte K+ channel gene. Grissmer, S., Dethlefs, B., Wasmuth, J.J., Goldin, A.L., Gutman, G.A., Cahalan, M.D., Chandy, K.G. Proc. Natl. Acad. Sci. U.S.A. (1990)
- Dinucleotide repeat polymorphisms near the KCNA6 and KCNA1 loci. Browne, D.L., Litt, M. Hum. Mol. Genet. (1994)
- Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Eunson, L.H., Rea, R., Zuberi, S.M., Youroukos, S., Panayiotopoulos, C.P., Liguori, R., Avoni, P., McWilliam, R.C., Stephenson, J.B., Hanna, M.G., Kullmann, D.M., Spauschus, A. Ann. Neurol. (2000)
- Molecular cloning and cultivar specific expression of MAP kinases from Capsicum annuum. Shin, H.J., Lee, D.E., Shin, D.H., Kim, K.U., Kim, H.Y., Ohashi, Y., Han, O., Baik, M.G., Back, K. Mol. Cells (2001)
- Molecular cloning, characterization, and genomic localization of a human potassium channel gene. Curran, M.E., Landes, G.M., Keating, M.T. Genomics (1992)
- Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13. Albrecht, B., Weber, K., Pongs, O. Recept. Channels (1995)
- Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. Rea, R., Spauschus, A., Eunson, L.H., Hanna, M.G., Kullmann, D.M. J. Physiol. (Lond.) (2002)
- Ultrasound of the abdomen in endurance athletes. Gabriel, H., Kindermann, W. European journal of applied physiology and occupational physiology. (1996)
- Increased bone mineral density after prolonged electrically induced cycle training of paralyzed limbs in spinal cord injured man. Mohr, T., Podenphant, J., Biering-Sorensen, F., Galbo, H., Thamsborg, G., Kjaer, M. Calcif. Tissue Int. (1997)
- A novel mutation in KCNA1 causes episodic ataxia without myokymia. Lee, H., Wang, H., Jen, J.C., Sabatti, C., Baloh, R.W., Nelson, S.F. Hum. Mutat. (2004)
- Current inactivation involves a histidine residue in the pore of the rat lymphocyte potassium channel RGK5. Busch, A.E., Hurst, R.S., North, R.A., Adelman, J.P., Kavanaugh, M.P. Biochem. Biophys. Res. Commun. (1991)
- Preparation of recombinant MK-1/Ep-CAM and establishment of an ELISA system for determining soluble MK-1/Ep-CAM levels in sera of cancer patients. Abe, H., Kuroki, M., Imakiire, T., Yamauchi, Y., Yamada, H., Arakawa, F., Kuroki, M. J. Immunol. Methods (2002)
- Anti-idiotypic antibodies against the kinin receptor. Haasemann, M., Buschko, J., Faussner, A., Roscher, A.A., Hoebeke, J., Burch, R., Muller-Esterl, W. Agents Actions Suppl. (1992)
- Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). Brandt, T., Strupp, M. Audiol. Neurootol. (1997)
- Genomic structure and expression of parathyroid hormone-related protein gene (PTHrP) in a teleost, Fugu rubripes. Power, D.M., Ingleton, P.M., Flanagan, J., Canario, A.V., Danks, J., Elgar, G., Clark, M.S. Gene (2000)
- Inherited neuromyotonia: A clinical and genetic study of a family. Falace, A., Striano, P., Manganelli, F., Coppola, A., Striano, S., Minetti, C., Zara, F. Neuromuscul. Disord. (2007)
- Three novel KCNA1 mutations in episodic ataxia type I families. Scheffer, H., Brunt, E.R., Mol, G.J., van der Vlies, P., Stulp, R.P., Verlind, E., Mantel, G., Averyanov, Y.N., Hofstra, R.M., Buys, C.H. Hum. Genet. (1998)
- Studies on urinary kallikreins. I. Purification and characterization of human urinary kallikreins. Matsuda, Y., Miyazaki, K., Moriya, H., Fujimoto, Y., Hojima, Y., Moriwaki, C. J. Biochem. (1976)