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Summary Expression Phenotypes Gene Literature (108) GO Terms (61) Nucleotides (62) Proteins (34) Interactants (83) Wiki
XB--982936

Papers associated with kcnb1 (and Disease Ontology)



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Modification of Kv2.1 K+ currents by the silent Kv10 subunits., Vega-Saenz de Miera EC., Brain Res Mol Brain Res. April 7, 2004; 123 (1-2): 91-103.

Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D., Gene. December 10, 2012; 511 (1): 26-33.   


Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram., Smith KE, Wilkie SE, Tebbs-Warner JT, Jarvis BJ, Gallasch L, Stocker M, Hunt DM., J Biol Chem. December 21, 2012; 287 (52): 43972-83.

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation., Bhat S, Rousseau J, Michaud C, Lourenço CM, Stoler JM, Louie RJ, Clarkson LK, Lichty A, Koboldt DC, Reshmi SC, Sisodiya SM, Hoytema van Konijnenburg EMM, Koop K, van Hasselt PM, Démurger F, Dubourg C, Sullivan BR, Hughes SS, Thiffault I, Tremblay ES, Accogli A, Srour M, Blunck R, Campeau PM., Am J Hum Genet. March 4, 2024; 111 (4): 761-777.   

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