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Items: 1 to 20 of 253

1.

A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.

Li H, Li N, Shen L, Jiang H, Yang Q, Song Y, Guo J, Xia K, Pan Q, Tang B.

Epilepsy Res. 2008 Mar;79(1):1-5. doi: 10.1016/j.eplepsyres.2007.12.005. Epub 2008 Feb 4.

PMID:
18249525
2.

[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].

Li HY, Tang BS, Yan XX, Guo JF, Shen L, Song YM, Jiang H, Xia K, Xie ZG, Yang QA.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):374-7. Chinese.

PMID:
16883520
3.

[A novel mutation in KCNQ2 gene causes benign familial infantile convulsions (BFIC) in a Chinese family].

Zhou XH, Ma AQ, Liu XH, Huang C, Zhang YM, Shi RM.

Zhonghua Er Ke Za Zhi. 2006 Jul;44(7):487-91. Chinese.

PMID:
17044971
4.

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF; BFNC Physician Consortium.

Brain. 2003 Dec;126(Pt 12):2726-37. Epub 2003 Oct 8.

5.

Benign familial neonatal convulsions caused by mutation in KCNQ3, exon 6: a European case.

Fister P, Soltirovska-Salamon A, Debeljak M, Paro-Panjan D.

Eur J Paediatr Neurol. 2013 May;17(3):308-10. doi: 10.1016/j.ejpn.2012.10.007. Epub 2012 Nov 10.

PMID:
23146207
6.

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.

Otto JF, Singh NA, Dahle EJ, Leppert MF, Pappas CM, Pruess TH, Wilcox KS, White HS.

Epilepsia. 2009 Jul;50(7):1752-9. doi: 10.1111/j.1528-1167.2009.02100.x. Epub 2009 Apr 27.

7.

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M.

Neurogenetics. 2005 Dec;6(4):185-93. Epub 2005 Oct 19.

PMID:
16235065
8.

Lack of potassium current in W309R mutant KCNQ3 channel causing benign familial neonatal convulsions (BFNC).

Sugiura Y, Nakatsu F, Hiroyasu K, Ishii A, Hirose S, Okada M, Jibiki I, Ohno H, Kaneko S, Ugawa Y.

Epilepsy Res. 2009 Mar;84(1):82-5. doi: 10.1016/j.eplepsyres.2008.12.003. Epub 2009 Jan 23.

PMID:
19167866
9.

[A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].

Li HY, Tang BS, Zhang AM, Cao QH, Meng GL, Jiang H, Shen L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Dec;20(6):482-5. Chinese.

PMID:
14669214
10.

A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).

Yalçin O, Cağlayan SH, Saltik S, Cokar O, Ağan K, Dervent A, Steinlein OK.

Turk J Pediatr. 2007 Oct-Dec;49(4):385-9.

11.

A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.

Tang B, Li H, Xia K, Jiang H, Pan Q, Shen L, Long Z, Zhao G, Cai F.

J Neurol Sci. 2004 Jun 15;221(1-2):31-4.

PMID:
15178210
12.

Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.

Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M.

J Neurosci. 2002 Jan 15;22(2):RC199.

13.

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.

14.

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T.

Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec.

PMID:
18625963
15.

De novo KCNQ2 mutations in patients with benign neonatal seizures.

Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P.

Neurology. 2004 Dec 14;63(11):2155-8.

PMID:
15596769
16.

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Hahn A, Neubauer BA.

Brain Dev. 2009 Aug;31(7):515-20. doi: 10.1016/j.braindev.2009.04.012. Epub 2009 May 22. Review.

PMID:
19464834
17.

Benign familial neonatal convulsions: novel mutation in a newborn.

Lee IC, Chen JY, Chen YJ, Yu JS, Su PH.

Pediatr Neurol. 2009 May;40(5):387-91. doi: 10.1016/j.pediatrneurol.2008.12.004.

PMID:
19380078
18.

Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A.

Eur J Hum Genet. 2000 Dec;8(12):994-7.

19.
20.

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
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