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Items: 1 to 20 of 111

1.

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.

Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL Jr, Kearney JA.

Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5443-8. doi: 10.1073/pnas.1017539108. Epub 2011 Mar 14.

2.

Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.

Bergren SK, Rutter ED, Kearney JA.

Mamm Genome. 2009 Jun;20(6):359-66. doi: 10.1007/s00335-009-9193-6. Epub 2009 Jun 10.

3.

Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.

Hawkins NA, Kearney JA.

Genes Brain Behav. 2012 Jun;11(4):452-60. doi: 10.1111/j.1601-183X.2012.00790.x. Epub 2012 Apr 27.

4.

Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.

Hawkins NA, Kearney JA.

Epilepsy Res. 2016 Jan;119:20-3. doi: 10.1016/j.eplepsyres.2015.11.016. Epub 2015 Dec 1.

PMID:
26656780
5.

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

Kearney JA, Yang Y, Beyer B, Bergren SK, Claes L, Dejonghe P, Frankel WN.

Hum Mol Genet. 2006 Mar 15;15(6):1043-8. Epub 2006 Feb 7.

6.

Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes.

Czirják G, Tóth ZE, Enyedi P.

J Neurophysiol. 2007 Sep;98(3):1213-22. Epub 2007 Jul 25.

7.

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. 2012 Dec 21;287(52):43972-83. doi: 10.1074/jbc.M112.388033. Epub 2012 Oct 31.

8.

Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.

Bergren SK, Chen S, Galecki A, Kearney JA.

Mamm Genome. 2005 Sep;16(9):683-90. Epub 2005 Oct 19.

PMID:
16245025
9.

The retinal clock drives the expression of Kcnv2, a channel essential for visual function and cone survival.

Hölter P, Kunst S, Wolloscheck T, Kelleher DK, Sticht C, Wolfrum U, Spessert R.

Invest Ophthalmol Vis Sci. 2012 Oct 5;53(11):6947-54. doi: 10.1167/iovs.12-10234.

PMID:
22969075
10.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S.

Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12.

PMID:
21882291
11.

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.

Neurology. 2009 Sep 29;73(13):1046-53. doi: 10.1212/WNL.0b013e3181b9cebc.

12.

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

Kearney JA, Plummer NW, Smith MR, Kapur J, Cummins TR, Waxman SG, Goldin AL, Meisler MH.

Neuroscience. 2001;102(2):307-17.

PMID:
11166117
13.

Channelopathies as a genetic cause of epilepsy.

Mulley JC, Scheffer IE, Petrou S, Berkovic SF.

Curr Opin Neurol. 2003 Apr;16(2):171-6. Review.

PMID:
12644745
14.

Recent advances in the modulation of voltage-gated ion channels for the treatment of epilepsy.

Cosford ND, Meinke PT, Stauderman KA, Hess SD.

Curr Drug Targets CNS Neurol Disord. 2002 Feb;1(1):81-104. Review.

PMID:
12769636
15.

Genetic modifiers of the Kv beta2-null phenotype in mice.

Connor JX, McCormack K, Pletsch A, Gaeta S, Ganetzky B, Chiu SY, Messing A.

Genes Brain Behav. 2005 Mar;4(2):77-88.

16.

Biochemical and anatomical evidence for specialized voltage-dependent calcium channel gamma isoform expression in the epileptic and ataxic mouse, stargazer.

Sharp AH, Black JL 3rd, Dubel SJ, Sundarraj S, Shen JP, Yunker AM, Copeland TD, McEnery MW.

Neuroscience. 2001;105(3):599-617. Erratum in: Neuroscience 2001;108(4):713.

PMID:
11516827
17.

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.

Ophthalmology. 2013 Nov;120(11):2338-43. doi: 10.1016/j.ophtha.2013.03.031. Epub 2013 May 29.

PMID:
23725738
18.

RETINA-specific expression of Kcnv2 is controlled by cone-rod homeobox (Crx) and neural retina leucine zipper (Nrl).

Aslanidis A, Karlstetter M, Walczak Y, Jägle H, Langmann T.

Adv Exp Med Biol. 2014;801:31-41. doi: 10.1007/978-1-4614-3209-8_5.

PMID:
24664678
19.

Rod and cone function in patients with KCNV2 retinopathy.

Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H.

PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15.

20.

Modes of regulation of shab K+ channel activity by the Kv8.1 subunit.

Salinas M, de Weille J, Guillemare E, Lazdunski M, Hugnot JP.

J Biol Chem. 1997 Mar 28;272(13):8774-80.

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