BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 28728838)

  • 1. KCNQ2 encephalopathy: A case due to a de novo deletion.
    Spagnoli C; Salerno GG; Iodice A; Frattini D; Pisani F; Fusco C
    Brain Dev; 2018 Jan; 40(1):65-68. PubMed ID: 28728838
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
    Kojima K; Shirai K; Kobayashi M; Miyauchi A; Saitsu H; Matsumoto N; Osaka H; Yamagata T
    Brain Dev; 2018 Jan; 40(1):69-73. PubMed ID: 28687180
    [TBL] [Abstract][Full Text] [Related]  

  • 3. KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures.
    Freibauer A; Jones K
    Epileptic Disord; 2018 Dec; 20(6):541-544. PubMed ID: 30530441
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 23621294
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characteristics of KCNQ2 encephalopathy.
    Kim HJ; Yang D; Kim SH; Won D; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2021 Feb; 43(2):244-250. PubMed ID: 32917465
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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; 8():80. PubMed ID: 23692823
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.
    Kearney JA; Yang Y; Beyer B; Bergren SK; Claes L; Dejonghe P; Frankel WN
    Hum Mol Genet; 2006 Mar; 15(6):1043-8. PubMed ID: 16464983
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Early and effective treatment of KCNQ2 encephalopathy.
    Pisano T; Numis AL; Heavin SB; Weckhuysen S; Angriman M; Suls A; Podesta B; Thibert RL; Shapiro KA; Guerrini R; Scheffer IE; Marini C; Cilio MR
    Epilepsia; 2015 May; 56(5):685-91. PubMed ID: 25880994
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.
    Ihara Y; Tomonoh Y; Deshimaru M; Zhang B; Uchida T; Ishii A; Hirose S
    PLoS One; 2016; 11(2):e0150095. PubMed ID: 26910900
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
    Abidi A; Devaux JJ; Molinari F; Alcaraz G; Michon FX; Sutera-Sardo J; Becq H; Lacoste C; Altuzarra C; Afenjar A; Mignot C; Doummar D; Isidor B; Guyen SN; Colin E; De La Vaissière S; Haye D; Trauffler A; Badens C; Prieur F; Lesca G; Villard L; Milh M; Aniksztejn L
    Neurobiol Dis; 2015 Aug; 80():80-92. PubMed ID: 26007637
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.
    Vilan A; Mendes Ribeiro J; Striano P; Weckhuysen S; Weeke LC; Brilstra E; de Vries LS; Cilio MR
    Neonatology; 2017; 112(4):387-393. PubMed ID: 28926830
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
    Millichap JJ; Miceli F; De Maria M; Keator C; Joshi N; Tran B; Soldovieri MV; Ambrosino P; Shashi V; Mikati MA; Cooper EC; Taglialatela M
    Epilepsia; 2017 Jan; 58(1):e10-e15. PubMed ID: 27861786
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.
    Lee IC; Chang TM; Liang JS; Li SY
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00816. PubMed ID: 31199083
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.
    Soldovieri MV; Ambrosino P; Mosca I; Miceli F; Franco C; Canzoniero LMT; Kline-Fath B; Cooper EC; Venkatesan C; Taglialatela M
    Int J Mol Sci; 2019 Jul; 20(14):. PubMed ID: 31295832
    [TBL] [Abstract][Full Text] [Related]  

  • 17. KCNQ2 related early-onset epileptic encephalopathies in Chinese children.
    Fang ZX; Zhang M; Xie LL; Jiang L; Hong SQ; Li XJ; Hu Y; Chen J
    J Neurol; 2019 Sep; 266(9):2224-2232. PubMed ID: 31152295
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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;
    Neurology; 2013 Nov; 81(19):1697-703. PubMed ID: 24107868
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy.
    Lee IC; Chang MY; Liang JS; Chang TM
    J Formos Med Assoc; 2021 Jan; 120(1 Pt 3):744-754. PubMed ID: 32863083
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.