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Items: 1 to 20 of 119

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.

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.

4.

Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.

Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA.

Epilepsia. 2016 Jun;57(6):e103-7. doi: 10.1111/epi.13390. Epub 2016 Apr 25.

5.

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.

6.

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.

PMID:
16464983
7.

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.

8.

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.

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.

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.

11.

Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.

Qu J, Lu SH, Lu ZL, Xu P, Xiang DX, Qu Q.

Medicine (Baltimore). 2017 Jun;96(26):e7321. doi: 10.1097/MD.0000000000007321.

12.

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.

13.

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.

Calhoun JD, Hawkins NA, Zachwieja NJ, Kearney JA.

Epilepsia. 2017 Aug;58(8):e111-e115. doi: 10.1111/epi.13811. Epub 2017 May 28.

PMID:
28556246
14.

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice.

Thompson CH, Hawkins NA, Kearney JA, George AL Jr.

Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):1696-1701. doi: 10.1073/pnas.1615774114. Epub 2017 Jan 30.

15.

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
16.

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.

17.

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
18.

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

Martin MS, Tang B, Papale LA, Yu FH, Catterall WA, Escayg A.

Hum Mol Genet. 2007 Dec 1;16(23):2892-9. Epub 2007 Sep 19.

PMID:
17881658
19.

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
20.

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

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