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 *

211 related articles for article (PubMed ID: 31951342)

  • 1. A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.
    Benetou C; Papailiou S; Maritsi D; Anagnostopoulou K; Kontos H; Vartzelis G
    Turk J Pediatr; 2019; 61(2):279-281. PubMed ID: 31951342
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
    Milh M; Lacoste C; Cacciagli P; Abidi A; Sutera-Sardo J; Tzelepis I; Colin E; Badens C; Afenjar A; Coeslier AD; Dailland T; Lesca G; Philip N; Villard L
    Am J Med Genet A; 2015 Oct; 167A(10):2314-8. PubMed ID: 25959266
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 23360469
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. [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. PubMed ID: 17044971
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
    Numis AL; Angriman M; Sullivan JE; Lewis AJ; Striano P; Nabbout R; Cilio MR
    Neurology; 2014 Jan; 82(4):368-70. PubMed ID: 24371303
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
    Heron SE; Cox K; Grinton BE; Zuberi SM; Kivity S; Afawi Z; Straussberg R; Berkovic SF; Scheffer IE; Mulley JC
    J Med Genet; 2007 Dec; 44(12):791-6. PubMed ID: 17675531
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
    Miceli F; Soldovieri MV; Ambrosino P; De Maria M; Migliore M; Migliore R; Taglialatela M
    J Neurosci; 2015 Mar; 35(9):3782-93. PubMed ID: 25740509
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Clinical and genetic analysis of 18 patients with
    Cao B; Peng B; Tian Y; Wang X; Li X; Zhu H; Shen H; Chen W
    Turk J Pediatr; 2024 May; 66(2):191-204. PubMed ID: 38814296
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.