169 related articles for article (PubMed ID: 11175290)
1. 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. PubMed ID: 11175290
[TBL] [Abstract][Full Text] [Related]
2. 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; 49(4):385-9. PubMed ID: 18246739
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9425895
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 9425900
[TBL] [Abstract][Full Text] [Related]
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;
Brain; 2003 Dec; 126(Pt 12):2726-37. PubMed ID: 14534157
[TBL] [Abstract][Full Text] [Related]
6. Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.
Pereira S; Roll P; Krizova J; Genton P; Brazdil M; Kuba R; Cau P; Rektor I; Szepetowski P
Epilepsia; 2004 Apr; 45(4):384-90. PubMed ID: 15030501
[TBL] [Abstract][Full Text] [Related]
7. 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; 221(1-2):31-4. PubMed ID: 15178210
[TBL] [Abstract][Full Text] [Related]
8. [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. PubMed ID: 14669214
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 10774989
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 18640800
[TBL] [Abstract][Full Text] [Related]
11. 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; 462(1):24-9. PubMed ID: 19559753
[TBL] [Abstract][Full Text] [Related]
12. Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.
Hunter J; Maljevic S; Shankar A; Siegel A; Weissman B; Holt P; Olson L; Lerche H; Escayg A
Neurobiol Dis; 2006 Oct; 24(1):194-201. PubMed ID: 16916607
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 16686649
[TBL] [Abstract][Full Text] [Related]
14. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Dedek K; Kunath B; Kananura C; Reuner U; Jentsch TJ; Steinlein OK
Proc Natl Acad Sci U S A; 2001 Oct; 98(21):12272-7. PubMed ID: 11572947
[TBL] [Abstract][Full Text] [Related]
15. Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
Dedek K; Fusco L; Teloy N; Steinlein OK
Epilepsy Res; 2003 Apr; 54(1):21-7. PubMed ID: 12742592
[TBL] [Abstract][Full Text] [Related]
16. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
Schroeder BC; Kubisch C; Stein V; Jentsch TJ
Nature; 1998 Dec; 396(6712):687-90. PubMed ID: 9872318
[TBL] [Abstract][Full Text] [Related]
17. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
Hahn A; Neubauer BA
Brain Dev; 2009 Aug; 31(7):515-20. PubMed ID: 19464834
[TBL] [Abstract][Full Text] [Related]
18. 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; 22(2):RC199. PubMed ID: 11784811
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 19380078
[TBL] [Abstract][Full Text] [Related]
20. Benign familial neonatal convulsions: always benign?
Steinlein OK; Conrad C; Weidner B
Epilepsy Res; 2007 Mar; 73(3):245-9. PubMed ID: 17129708
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]