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Items: 1 to 20 of 134

1.

KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Numis AL, Angriman M, Sullivan JE, Lewis AJ, Striano P, Nabbout R, Cilio MR.

Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.

2.

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, Grønborg S, Schoonjans AS, Ceulemans B, Heavin SB, Eltze C, Horvath R, Casara G, Pisano T, Giordano L, Rostasy K, Haberlandt E, Albrecht B, Bevot A, Benkel I, Syrbe S, Sheidley B, Guerrini R, Poduri A, Lemke JR, Mandelstam S, Scheffer I, Angriman M, Striano P, Marini C, Suls A, De Jonghe P; KCNQ2 Study Group..

Neurology. 2013 Nov 5;81(19):1697-703. doi: 10.1212/01.wnl.0000435296.72400.a1. Epub 2013 Oct 9.

3.

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M, Boutry-Kryza N, Sutera-Sardo J, Mignot C, Auvin S, Lacoste C, Villeneuve N, Roubertie A, Heron B, Carneiro M, Kaminska A, Altuzarra C, Blanchard G, Ville D, Barthez MA, Heron D, Gras D, Afenjar A, Dorison N, Doummar D, Billette de Villemeur T, An I, Jacquette A, Charles P, Perrier J, Isidor B, Vercueil L, Chabrol B, Badens C, Lesca G, Villard L.

Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.

4.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H.

Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26.

5.

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.

6.

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

Saadeldin IY, Milhem RM, Al-Gazali L, Ali BR.

Pediatr Neurol. 2013 Jan;48(1):63-6. doi: 10.1016/j.pediatrneurol.2012.09.012.

PMID:
23290024
7.

Cooperativity between calmodulin-binding sites in Kv7.2 channels.

Alaimo A, Alberdi A, Gomis-Perez C, Fernández-Orth J, Gómez-Posada JC, Areso P, Villarroel A.

J Cell Sci. 2013 Jan 1;126(Pt 1):244-53. doi: 10.1242/jcs.114082. Epub 2012 Nov 30.

8.

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission.

Tomlinson SE, Bostock H, Grinton B, Hanna MG, Kullmann DM, Kiernan MC, Scheffer IE, Berkovic SF, Burke D.

Brain. 2012 Oct;135(Pt 10):3144-52. doi: 10.1093/brain/aws241.

9.

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
10.

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
11.

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
12.

A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.

Su J, Cao X, Wang K.

J Biol Chem. 2011 Dec 16;286(50):42949-58. doi: 10.1074/jbc.M111.287268. Epub 2011 Sep 21.

13.

Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

Maljevic S, Naros G, Yalçin Ö, Blazevic D, Loeffler H, Cağlayan H, Steinlein OK, Lerche H.

Hum Mutat. 2011 Oct;32(10):E2283-93. doi: 10.1002/humu.21554.

PMID:
21913284
14.

Accumulation of Kv7.2 channels in putative ectopic transduction zones of mice nerve-end neuromas.

Roza C, Castillejo S, Lopez-García JA.

Mol Pain. 2011 Aug 14;7:58. doi: 10.1186/1744-8069-7-58.

15.

KCNQ2/3 openers show differential selectivity and site of action across multiple KCNQ channels.

Zhang D, Thimmapaya R, Zhang XF, Anderson DJ, Baranowski JL, Scanio M, Perez-Medrano A, Peddi S, Wang Z, Patel JR, DeGoey DA, Gopalakrishnan M, Honore P, Yao BB, Surowy CS.

J Neurosci Methods. 2011 Aug 30;200(1):54-62. doi: 10.1016/j.jneumeth.2011.06.014. Epub 2011 Jun 23.

PMID:
21723881
16.

Transcriptional repression of the M channel subunit Kv7.2 in chronic nerve injury.

Rose K, Ooi L, Dalle C, Robertson B, Wood IC, Gamper N.

Pain. 2011 Apr;152(4):742-54. doi: 10.1016/j.pain.2010.12.028. Epub 2011 Feb 23.

17.

The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

Yum MS, Ko TS, Yoo HW.

J Korean Med Sci. 2010 Feb;25(2):324-6. doi: 10.3346/jkms.2010.25.2.324. Epub 2010 Jan 22.

18.

Novel mutation in KCNQ2 causing benign familial neonatal seizures.

Goldberg-Stern H, Kaufmann R, Kivity S, Afawi Z, Heron SE.

Pediatr Neurol. 2009 Nov;41(5):367-70. doi: 10.1016/j.pediatrneurol.2009.05.009.

PMID:
19818940
19.

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP.

Neurosci Lett. 2009 Oct 2;462(1):24-9. doi: 10.1016/j.neulet.2009.06.064. Epub 2009 Jun 25.

PMID:
19559753
20.

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. Erratum in: Pediatr Int. 2015 Feb;57(1):194. Pediatr Int. 2015 Feb;57(1):194.

PMID:
18353052

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