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Items: 1 to 20 of 131

1.
2.

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
3.

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M.

Nat Genet. 1998 Jan;18(1):25-9.

PMID:
9425895
4.

The new voltage gated potassium channel KCNQ5 and neonatal convulsions.

Kananura C, Biervert C, Hechenberger M, Engels H, Steinlein OK.

Neuroreport. 2000 Jun 26;11(9):2063-7.

PMID:
10884071
5.

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.

PMID:
14534157
6.
7.

A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.

Lee WL, Biervert C, Hallmann K, Tay A, Dean JC, Steinlein OK.

Neuropediatrics. 2000 Feb;31(1):9-12.

PMID:
10774989
8.

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.

PMID:
18246739
9.

The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy.

Steinlein OK, Stoodt J, Biervert C, Janz D, Sander T.

Neuroreport. 1999 Apr 26;10(6):1163-6.

PMID:
10363917
10.

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M.

Nat Genet. 1998 Jan;18(1):53-5.

PMID:
9425900
11.

The voltage-gated potassium channel KCNQ2 in Taiwanese children with febrile convulsions.

Chou IC, Tsai FJ, Huang CC, Lin CC, Tsai CH.

Neuroreport. 2002 Oct 28;13(15):1971-3.

PMID:
12395102
12.

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
13.

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.

14.

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.

Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK.

Ann Neurol. 1999 Sep;46(3):305-12.

PMID:
10482260
15.

[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
16.

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
17.
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.

Gene defects in idiopathic epilepsy.

Steinlein OK.

Rev Neurol (Paris). 1999 Jul;155(6-7):450-3. Review.

PMID:
10472657
20.

A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.

de Haan GJ, Pinto D, Carton D, Bader A, Witte J, Peters E, van Erp G, Vandereyken W, Boezeman E, Wapenaar MC, Boon P, Halley D, Koeleman BP, Lindhout D.

Epilepsia. 2006 May;47(5):851-9.

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