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Results: 1 to 20 of 58

1.

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M.

Proc Natl Acad Sci U S A. 2013 Mar 12;110(11):4386-91. doi: 10.1073/pnas.1216867110. Epub 2013 Feb 25.

PMID:
23440208
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

PMID:
23360469
[PubMed - indexed for MEDLINE]
3.

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

Saitsu H, Kato M, Koide A, Goto T, Fujita T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.

Ann Neurol. 2012 Aug;72(2):298-300. doi: 10.1002/ana.23620. No abstract available.

PMID:
22926866
[PubMed - indexed for MEDLINE]
4.

KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.

Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S.

Epilepsy Res. 2012 Nov;102(1-2):122-5. doi: 10.1016/j.eplepsyres.2012.07.011. Epub 2012 Aug 10.

PMID:
22884718
[PubMed - indexed for MEDLINE]
5.

Retigabine as adjunctive therapy in adults with partial-onset seizures: integrated analysis of three pivotal controlled trials.

Porter RJ, Burdette DE, Gil-Nagel A, Hall ST, White R, Shaikh S, DeRossett SE.

Epilepsy Res. 2012 Aug;101(1-2):103-12. doi: 10.1016/j.eplepsyres.2012.03.010. Epub 2012 Apr 16.

PMID:
22512894
[PubMed - indexed for MEDLINE]
6.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P.

Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.

PMID:
22275249
[PubMed - indexed for MEDLINE]
7.

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.

Am J Hum Genet. 2012 Jan 13;90(1):152-60. doi: 10.1016/j.ajhg.2011.12.003.

PMID:
22243967
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

Blumkin L, Suls A, Deconinck T, De Jonghe P, Linder I, Kivity S, Dabby R, Leshinsky-Silver E, Lev D, Lerman-Sagie T.

Eur J Paediatr Neurol. 2012 Jul;16(4):356-60. doi: 10.1016/j.ejpn.2011.11.004. Epub 2011 Dec 14.

PMID:
22169383
[PubMed - indexed for MEDLINE]
9.

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels.

Soldovieri MV, Miceli F, Taglialatela M.

Physiology (Bethesda). 2011 Oct;26(5):365-76. doi: 10.1152/physiol.00009.2011. Review.

PMID:
22013194
[PubMed - indexed for MEDLINE]
Free Article
10.

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.

Giardino D, Vignoli A, Ballarati L, Recalcati MP, Russo S, Camporeale N, Marchi M, Finelli P, Accorsi P, Giordano L, La Briola F, Chiesa V, Canevini MP, Larizza L.

BMC Med Genet. 2010 Oct 12;11:146. doi: 10.1186/1471-2350-11-146.

PMID:
20939888
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, Moshé SL, Nordli D, Plouin P, Scheffer IE.

Epilepsia. 2010 Apr;51(4):676-85. doi: 10.1111/j.1528-1167.2010.02522.x. Epub 2010 Feb 26.

PMID:
20196795
[PubMed - indexed for MEDLINE]
12.

Expression, localization, and pharmacological role of Kv7 potassium channels in skeletal muscle proliferation, differentiation, and survival after myotoxic insults.

Iannotti FA, Panza E, Barrese V, Viggiano D, Soldovieri MV, Taglialatela M.

J Pharmacol Exp Ther. 2010 Mar;332(3):811-20. doi: 10.1124/jpet.109.162800. Epub 2009 Dec 29.

PMID:
20040580
[PubMed - indexed for MEDLINE]
Free Article
13.

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.

Kurahashi H, Wang JW, Ishii A, Kojima T, Wakai S, Kizawa T, Fujimoto Y, Kikkawa K, Yoshimura K, Inoue T, Yasumoto S, Ogawa A, Kaneko S, Hirose S.

Neurology. 2009 Oct 13;73(15):1214-7. doi: 10.1212/WNL.0b013e3181bc0158.

PMID:
19822871
[PubMed - indexed for MEDLINE]
14.

Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures.

Miceli F, Soldovieri MV, Lugli L, Bellini G, Ambrosino P, Migliore M, del Giudice EM, Ferrari F, Pascotto A, Taglialatela M.

Neurobiol Dis. 2009 Jun;34(3):501-10. doi: 10.1016/j.nbd.2009.03.009. Epub 2009 Apr 1. Erratum in: Neurobiol Dis. 2009 Aug;35(2):318.

PMID:
19344764
[PubMed - indexed for MEDLINE]
15.

A KCNQ channel opener for experimental neonatal seizures and status epilepticus.

Raol YH, Lapides DA, Keating JG, Brooks-Kayal AR, Cooper EC.

Ann Neurol. 2009 Mar;65(3):326-36. doi: 10.1002/ana.21593.

PMID:
19334075
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Neural KCNQ (Kv7) channels.

Brown DA, Passmore GM.

Br J Pharmacol. 2009 Apr;156(8):1185-95. doi: 10.1111/j.1476-5381.2009.00111.x. Epub 2009 Mar 9. Review.

PMID:
19298256
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S.

Brain Dev. 2009 Jan;31(1):27-33. doi: 10.1016/j.braindev.2008.05.010. Epub 2008 Jul 21.

PMID:
18640800
[PubMed - indexed for MEDLINE]
18.

Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.

Sadewa AH, Sasongko TH; Gunadi, Lee MJ, Daikoku K, Yamamoto A, Yamasaki T, Tanaka S, Matsuo M, Nishio H.

Pediatr Int. 2008 Apr;50(2):167-71. doi: 10.1111/j.1442-200X.2008.02539.x.

PMID:
18353052
[PubMed - indexed for MEDLINE]
19.

Vascular KCNQ potassium channels as novel targets for the control of mesenteric artery constriction by vasopressin, based on studies in single cells, pressurized arteries, and in vivo measurements of mesenteric vascular resistance.

Mackie AR, Brueggemann LI, Henderson KK, Shiels AJ, Cribbs LL, Scrogin KE, Byron KL.

J Pharmacol Exp Ther. 2008 May;325(2):475-83. doi: 10.1124/jpet.107.135764. Epub 2008 Feb 13.

PMID:
18272810
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs.

Miceli F, Soldovieri MV, Martire M, Taglialatela M.

Curr Opin Pharmacol. 2008 Feb;8(1):65-74. Epub 2007 Dec 3. Review.

PMID:
18061539
[PubMed - indexed for MEDLINE]

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