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Summary Expression Phenotypes Gene Literature (91) GO Terms (0) Nucleotides (103) Proteins (42) Interactants (133) Wiki
XB--6047372

Papers associated with kcnq2 (and Disease Ontology)



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Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA, Hinojo-Perez A, Wu X, Perez Rodriguez ME, Barro-Soria R., Elife. January 1, 2022; 11                           


A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB, Willsey HR, Xu Y, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T., Cell Syst. November 17, 2021; 12 (11): 1094-1107.e6.            


Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I., Maghera J, Li J, Lamothe SM, Braun M, Appendino JP, Au PYB, Kurata HT., Epilepsia Open. December 1, 2020; 5 (4): 562-573.          


Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine., Manville RW, Abbott GW., J Pharmacol Exp Ther. June 1, 2020; 373 (3): 391-401.


Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening., Barro-Soria R., J Gen Physiol. February 4, 2019; 151 (2): 247-257.          


Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S, Vejzovic S, Bernhard MK, Bertsche A, Weise S, Döcker M, Lerche H, Lemke JR, Merkenschlager A, Syrbe S., Mol Syndromol. September 1, 2016; 7 (4): 189-196.


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.        


Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV, Penzien J, Fauler M, Seebohm G, Lehmann-Horn F, Lerche H, Jurkat-Rott K., J Physiol. January 15, 2008; 586 (2): 545-55.


Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy., Hunter J, Maljevic S, Shankar A, Siegel A, Weissman B, Holt P, Olson L, Lerche H, Escayg A., Neurobiol Dis. October 1, 2006; 24 (1): 194-201.


Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL, Bianchi MT, Bianch MT, Feng H., Exp Neurol. November 1, 2003; 184 Suppl 1 S58-67.

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