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Results: 1 to 20 of 83

Cited In for PubMed (Select 7842011)

1.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-9. doi: 10.1038/ng.3239. Epub 2015 Mar 9.

PMID:
25751627
2.

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.

D'Adamo MC, Gallenmüller C, Servettini I, Hartl E, Tucker SJ, Arning L, Biskup S, Grottesi A, Guglielmi L, Imbrici P, Bernasconi P, Di Giovanni G, Franciolini F, Catacuzzeno L, Pessia M, Klopstock T.

Front Physiol. 2015 Jan 15;5:525. doi: 10.3389/fphys.2014.00525. eCollection 2014.

3.

Auditory deficits of Kcna1 deletion are similar to those of a monaural hearing impairment.

Karcz A, Allen PD, Walton J, Ison JR, Kopp-Scheinpflug C.

Hear Res. 2015 Mar;321:45-51. doi: 10.1016/j.heares.2015.01.003. Epub 2015 Jan 17.

PMID:
25602577
4.

RNA editing in the central cavity as a mechanism to regulate surface expression of the voltage-gated potassium channel Kv1.1.

Streit AK, Matschke LA, Dolga AM, Rinné S, Decher N.

J Biol Chem. 2014 Sep 26;289(39):26762-71. doi: 10.1074/jbc.M113.545731. Epub 2014 Aug 6.

PMID:
25100718
5.

Genes and genetic testing in hereditary ataxias.

Sandford E, Burmeister M.

Genes (Basel). 2014 Jul 22;5(3):586-603. doi: 10.3390/genes5030586.

6.

Lack of neuropathy-related phenotypes in hint1 knockout mice.

Seburn KL, Morelli KH, Jordanova A, Burgess RW.

J Neuropathol Exp Neurol. 2014 Jul;73(7):693-701. doi: 10.1097/NEN.0000000000000085.

PMID:
24918641
7.

The node of Ranvier in CNS pathology.

Arancibia-Carcamo IL, Attwell D.

Acta Neuropathol. 2014 Aug;128(2):161-75. doi: 10.1007/s00401-014-1305-z. Epub 2014 Jun 10. Review.

8.

A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.

Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD.

J Vet Intern Med. 2014 May-Jun;28(3):871-7. doi: 10.1111/jvim.12355. Epub 2014 Apr 7.

9.

Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.

Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators.

Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26.

10.

Opening paths to novel analgesics: the role of potassium channels in chronic pain.

Tsantoulas C, McMahon SB.

Trends Neurosci. 2014 Mar;37(3):146-58. doi: 10.1016/j.tins.2013.12.002. Epub 2014 Jan 21. Review.

11.

Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.

Shah NH, Aizenman E.

Transl Stroke Res. 2014 Feb;5(1):38-58. doi: 10.1007/s12975-013-0297-7. Epub 2013 Nov 19. Review.

12.

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.

Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sánchez I.

Cerebellum. 2014 Apr;13(2):269-302. doi: 10.1007/s12311-013-0539-y.

13.

Genomic biomarkers of SUDEP in brain and heart.

Glasscock E.

Epilepsy Behav. 2014 Sep;38:172-9. doi: 10.1016/j.yebeh.2013.09.019. Epub 2013 Oct 17.

PMID:
24139807
14.

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

D'Adamo MC, Catacuzzeno L, Di Giovanni G, Franciolini F, Pessia M.

Front Cell Neurosci. 2013 Sep 13;7:134. doi: 10.3389/fncel.2013.00134. Erratum in: Front Cell Neurosci. 2014;8:9.

15.

A null mutation of mouse Kcna10 causes significant vestibular and mild hearing dysfunction.

Lee SI, Conrad T, Jones SM, Lagziel A, Starost MF, Belyantseva IA, Friedman TB, Morell RJ.

Hear Res. 2013 Jun;300:1-9. doi: 10.1016/j.heares.2013.02.009. Epub 2013 Mar 22. Erratum in: Hear Res. 2013 Aug;302:83.

16.

Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

Hu Y, Jiang H, Wang Q, Xie Z, Pan S.

PLoS One. 2013;8(2):e56362. doi: 10.1371/journal.pone.0056362. Epub 2013 Feb 18.

17.

Ion channels as drug targets in central nervous system disorders.

Waszkielewicz AM, Gunia A, Szkaradek N, Słoczyńska K, Krupińska S, Marona H.

Curr Med Chem. 2013;20(10):1241-85. Review.

18.

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

Tomlinson SE, Rajakulendran S, Tan SV, Graves TD, Bamiou DE, Labrum RW, Burke D, Sue CM, Giunti P, Schorge S, Kullmann DM, Hanna MG.

J Neurol Neurosurg Psychiatry. 2013 Oct;84(10):1107-12. doi: 10.1136/jnnp-2012-304131. Epub 2013 Jan 24.

19.

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2.

Hansen ST, Meera P, Otis TS, Pulst SM.

Hum Mol Genet. 2013 Jan 15;22(2):271-83. doi: 10.1093/hmg/dds427. Epub 2012 Oct 18.

20.

Dampening of hyperexcitability in CA1 pyramidal neurons by polyunsaturated fatty acids acting on voltage-gated ion channels.

Tigerholm J, Börjesson SI, Lundberg L, Elinder F, Fransén E.

PLoS One. 2012;7(9):e44388. doi: 10.1371/journal.pone.0044388. Epub 2012 Sep 25.

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