Literature DB >> 23963749

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Anna Duarri1, Esther Nibbeling, Michiel R Fokkens, Michel Meijer, Erik Boddeke, Emmeline Lagrange, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Dineke S Verbeek.   

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Year:  2013        PMID： 23963749     DOI： 10.1007/s10048-013-0370-0

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  6 in total

Review 1.  Recent advances in the genetics of cerebellar ataxias.

Authors:  Anna Sailer; Henry Houlden
Journal:  Curr Neurol Neurosci Rep       Date:  2012-06       Impact factor: 5.081

Review 2.  Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Authors:  Alexandra Durr
Journal:  Lancet Neurol       Date:  2010-09       Impact factor: 44.182

3.  Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.

Authors:  John R Giudicessi; Dan Ye; David J Tester; Lia Crotti; Alessandra Mugione; Vladislav V Nesterenko; Richard M Albertson; Charles Antzelevitch; Peter J Schwartz; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2011-02-22       Impact factor: 6.343

4.  Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Authors:  Anna Duarri; Justyna Jezierska; Michiel Fokkens; Michel Meijer; Helenius J Schelhaas; Wilfred F A den Dunnen; Freerk van Dijk; Corien Verschuuren-Bemelmans; Gerard Hageman; Pieter van de Vlies; Benno Küsters; Bart P van de Warrenburg; Berry Kremer; Cisca Wijmenga; Richard J Sinke; Morris A Swertz; Harm H Kampinga; Erik Boddeke; Dineke S Verbeek
Journal:  Ann Neurol       Date:  2012-12       Impact factor: 10.422

5.  Mutations in KCND3 cause spinocerebellar ataxia type 22.

Authors:  Yi-Chung Lee; Alexandra Durr; Karen Majczenko; Yen-Hua Huang; Yu-Chao Liu; Cheng-Chang Lien; Pei-Chien Tsai; Yaeko Ichikawa; Jun Goto; Marie-Lorraine Monin; Jun Z Li; Ming-Yi Chung; Emeline Mundwiller; Vikram Shakkottai; Tze-Tze Liu; Christelle Tesson; Yi-Chun Lu; Alexis Brice; Shoji Tsuji; Margit Burmeister; Giovanni Stevanin; Bing-Wen Soong
Journal:  Ann Neurol       Date:  2012-12       Impact factor: 10.422

6.  A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.

Authors:  Morten Salling Olesen; Lena Refsgaard; Anders Gaarsdal Holst; Anders Peter Larsen; Søren Grubb; Stig Haunsø; Jesper Hastrup Svendsen; Søren-Peter Olesen; Nicole Schmitt; Kirstine Calloe
Journal:  Cardiovasc Res       Date:  2013-02-11       Impact factor: 10.787
  6 in total
  9 in total

1.  Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.

Authors:  Xiaofei Du; Joao L Carvalho-de-Souza; Cenfu Wei; Willy Carrasquel-Ursulaez; Yenisleidy Lorenzo; Naileth Gonzalez; Tomoya Kubota; Julia Staisch; Timothy Hain; Natalie Petrossian; Michael Xu; Ramon Latorre; Francisco Bezanilla; Christopher M Gomez
Journal:  Proc Natl Acad Sci U S A       Date:  2020-03-04       Impact factor: 11.205

2.  Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.

Authors:  Siew-Kee Low; Atsushi Takahashi; Yusuke Ebana; Kouichi Ozaki; Ingrid E Christophersen; Patrick T Ellinor; Soichi Ogishima; Masayuki Yamamoto; Mamoru Satoh; Makoto Sasaki; Taiki Yamaji; Motoki Iwasaki; Shoichiro Tsugane; Keitaro Tanaka; Mariko Naito; Kenji Wakai; Hideo Tanaka; Tetsushi Furukawa; Michiaki Kubo; Kaoru Ito; Yoichiro Kamatani; Toshihiro Tanaka
Journal:  Nat Genet       Date:  2017-04-17       Impact factor: 38.330

3.  Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.

Authors:  Anna Duarri; Meng-Chin A Lin; Michiel R Fokkens; Michel Meijer; Cleo J L M Smeets; Esther A R Nibbeling; Erik Boddeke; Richard J Sinke; Harm H Kampinga; Diane M Papazian; Dineke S Verbeek
Journal:  Cell Mol Life Sci       Date:  2015-04-09       Impact factor: 9.261

4.  First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

Authors:  Katrien Smets; Anna Duarri; Tine Deconinck; Berten Ceulemans; Bart P van de Warrenburg; Stephan Züchner; Michael Anthony Gonzalez; Rebecca Schüle; Matthis Synofzik; Nathalie Van der Aa; Peter De Jonghe; Dineke S Verbeek; Jonathan Baets
Journal:  BMC Med Genet       Date:  2015-07-21       Impact factor: 2.103

Review 5.  KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Authors:  Luca Pollini; Serena Galosi; Manuela Tolve; Caterina Caputi; Carla Carducci; Antonio Angeloni; Vincenzo Leuzzi
Journal:  Int J Mol Sci       Date:  2020-08-13       Impact factor: 5.923

6.  Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.

Authors:  Jérôme Clatot; Nathalie Neyroud; Robert Cox; Charlotte Souil; Jing Huang; Pascale Guicheney; Charles Antzelevitch
Journal:  Int J Mol Sci       Date:  2020-07-17       Impact factor: 5.923

7.  V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Authors:  Martin Paucar; Richard Ågren; Tianyi Li; Simon Lissmats; Åsa Bergendal; Jan Weinberg; Daniel Nilsson; Irina Savichetva; Kristoffer Sahlholm; Johanna Nilsson; Per Svenningsson
Journal:  Neurol Genet       Date:  2021-01-06

8.  Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.

Authors:  Ginevra Zanni; Chen-Tsung Hsiao; Ssu-Ju Fu; Chih-Yung Tang; Alessandro Capuano; Luca Bosco; Federica Graziola; Emanuele Bellacchio; Serenella Servidei; Guido Primiano; Bing-Wen Soong; Chung-Jiuan Jeng
Journal:  Int J Mol Sci       Date:  2021-05-07       Impact factor: 5.923

9.  Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.

Authors:  Anna Duarri; Esther A R Nibbeling; Michiel R Fokkens; Michel Meijer; Melissa Boerrigter; Corien C Verschuuren-Bemelmans; Berry P H Kremer; Bart P van de Warrenburg; Dennis Dooijes; Erik Boddeke; Richard J Sinke; Dineke S Verbeek
Journal:  PLoS One       Date:  2015-03-10       Impact factor: 3.240
  9 in total

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