Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. (Q48229743)

9 February 2018

title

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. (English)

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main subject

spinocerebellar ataxia

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14

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Anna Duarri

object named as

Anna Duarri

1

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Harm H Kampinga

object named as

Harm H Kampinga

17

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Morris A Swertz

16

object named as

Morris A Swertz

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9 February 2018

Justyna Jezierska

2

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Michiel Fokkens

3

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Michel Meijer

4

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Helenius J Schelhaas

5

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Wilfred F A den Dunnen

6

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Freerk van Dijk

7

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Corien Verschuuren-Bemelmans

8

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Gerard Hageman

9

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Pieter van de Vlies

10

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Benno Küsters

11

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Bart P van de Warrenburg

12

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Berry Kremer

13

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Richard J Sinke

15

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Erik Boddeke

18

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Dineke S Verbeek

19

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publication date

1 December 2012

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9 February 2018

published in

Annals of Neurology

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volume

72

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issue

6

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page(s)

870-880

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Deletion of Kv4.2 gene eliminates dendritic A-type K+ current and enhances induction of long-term potentiation in hippocampal CA1 pyramidal neurons.

21 January 2018

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Kv4.3 is not required for the generation of functional Ito,f channels in adult mouse ventricles

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

21 January 2018

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Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.23700

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9 February 2018

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9 February 2018