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7. Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together. Duarri A; Nibbeling E; Fokkens MR; Meijer M; Boddeke E; Lagrange E; Stevanin G; Brice A; Durr A; Verbeek DS Neurogenetics; 2015 Jul; 16(3):243. PubMed ID: 25863969 [No Abstract] [Full Text] [Related]
8. Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. You T; Mao W; Cai B; Li F; Xu H Int J Mol Med; 2015 Jul; 36(1):309-15. PubMed ID: 26016905 [TBL] [Abstract][Full Text] [Related]
9. A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22. Reis MC; Mandler L; Kang JS; Oliver D; Halaszovich C; Nolte D J Cell Mol Med; 2024 Aug; 28(16):e70039. PubMed ID: 39180521 [TBL] [Abstract][Full Text] [Related]
10. A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome. Li X; Li Z; Wang DWW; Wang DW; Wang Y Cardiology; 2020; 145(10):623-632. PubMed ID: 32818936 [TBL] [Abstract][Full Text] [Related]
11. Evaluation of genes encoding for the transient outward current (Ito) identifies the KCND2 gene as a cause of J-wave syndrome associated with sudden cardiac death. Perrin MJ; Adler A; Green S; Al-Zoughool F; Doroshenko P; Orr N; Uppal S; Healey JS; Birnie D; Sanatani S; Gardner M; Champagne J; Simpson C; Ahmad K; van den Berg MP; Chauhan V; Backx PH; van Tintelen JP; Krahn AD; Gollob MH Circ Cardiovasc Genet; 2014 Dec; 7(6):782-9. PubMed ID: 25214526 [TBL] [Abstract][Full Text] [Related]
12. Novel SCA19/22-associated KCND3 mutations disrupt human K Hsiao CT; Fu SJ; Liu YT; Lu YH; Zhong CY; Tang CY; Soong BW; Jeng CJ Hum Mutat; 2019 Nov; 40(11):2088-2107. PubMed ID: 31293010 [TBL] [Abstract][Full Text] [Related]
13. Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. Wang J; Wen Y; Zhang Q; Yu S; Chen Y; Wu X; Zhang Y; Bao X Seizure; 2019 Mar; 66():26-30. PubMed ID: 30776697 [TBL] [Abstract][Full Text] [Related]
17. [De novo sporadic mutation in the KCND3 gene in a patient with early onset chronic ataxia]. Carrasco-Marina ML; Quijada-Fraile P; Fernandez-Marmiesse A; Gutierrez-Cruz N; Martin-Del Valle F Rev Neurol; 2019 May; 68(9):398-399. PubMed ID: 31017293 [TBL] [Abstract][Full Text] [Related]
18. Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. Duarri A; Lin MC; Fokkens MR; Meijer M; Smeets CJ; Nibbeling EA; Boddeke E; Sinke RJ; Kampinga HH; Papazian DM; Verbeek DS Cell Mol Life Sci; 2015 Sep; 72(17):3387-99. PubMed ID: 25854634 [TBL] [Abstract][Full Text] [Related]
19. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Duarri A; Jezierska J; Fokkens M; Meijer M; Schelhaas HJ; den Dunnen WF; van Dijk F; Verschuuren-Bemelmans C; Hageman G; van de Vlies P; Küsters B; van de Warrenburg BP; Kremer B; Wijmenga C; Sinke RJ; Swertz MA; Kampinga HH; Boddeke E; Verbeek DS Ann Neurol; 2012 Dec; 72(6):870-80. PubMed ID: 23280838 [TBL] [Abstract][Full Text] [Related]
20. Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19. Paucar M; Bergendal Å; Gustavsson P; Nordenskjöld M; Laffita-Mesa J; Savitcheva I; Svenningsson P Cerebellum; 2018 Aug; 17(4):465-476. PubMed ID: 29527639 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]