These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 23065794)

  • 21. 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. PubMed ID: 22169383
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
    Orhan G; Bock M; Schepers D; Ilina EI; Reichel SN; Löffler H; Jezutkovic N; Weckhuysen S; Mandelstam S; Suls A; Danker T; Guenther E; Scheffer IE; De Jonghe P; Lerche H; Maljevic S
    Ann Neurol; 2014 Mar; 75(3):382-94. PubMed ID: 24318194
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Nervous system KV7 disorders: breakdown of a subthreshold brake.
    Maljevic S; Wuttke TV; Lerche H
    J Physiol; 2008 Apr; 586(7):1791-801. PubMed ID: 18238816
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.
    Lee IC; Yang JJ; Wong SH; Liou YM; Li SY
    Sci Rep; 2020 Aug; 10(1):13375. PubMed ID: 32770121
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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. PubMed ID: 20119593
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
    Tomlinson SE; Tan SV; Kullmann DM; Griggs RC; Burke D; Hanna MG; Bostock H
    Brain; 2010 Dec; 133(Pt 12):3530-40. PubMed ID: 21106501
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
    Zeng Q; Yang X; Zhang J; Liu A; Yang Z; Liu X; Wu Y; Wu X; Wei L; Zhang Y
    J Hum Genet; 2018 Jan; 63(1):9-18. PubMed ID: 29215089
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
    Wuttke TV; Penzien J; Fauler M; Seebohm G; Lehmann-Horn F; Lerche H; Jurkat-Rott K
    J Physiol; 2008 Jan; 586(2):545-55. PubMed ID: 18006581
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
    Wuttke TV; Jurkat-Rott K; Paulus W; Garncarek M; Lehmann-Horn F; Lerche H
    Neurology; 2007 Nov; 69(22):2045-53. PubMed ID: 17872363
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Potassium channel genes and benign familial neonatal epilepsy.
    Maljevic S; Lerche H
    Prog Brain Res; 2014; 213():17-53. PubMed ID: 25194482
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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. PubMed ID: 22275249
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.
    Miceli F; Vargas E; Bezanilla F; Taglialatela M
    Biophys J; 2012 Mar; 102(6):1372-82. PubMed ID: 22455920
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Reduced axonal surface expression and phosphoinositide sensitivity in K
    Kim EC; Zhang J; Pang W; Wang S; Lee KY; Cavaretta JP; Walters J; Procko E; Tsai NP; Chung HJ
    Neurobiol Dis; 2018 Oct; 118():76-93. PubMed ID: 30008368
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains.
    Chung HJ; Jan YN; Jan LY
    Proc Natl Acad Sci U S A; 2006 Jun; 103(23):8870-5. PubMed ID: 16735477
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
    Hortigüela M; Fernández-Marmiesse A; Cantarín V; Gouveia S; García-Peñas JJ; Fons C; Armstrong J; Barrios D; Díaz-Flores F; Tirado P; Couce ML; Gutiérrez-Solana LG
    J Hum Genet; 2017 Feb; 62(2):185-189. PubMed ID: 27535030
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.