(Q34275865)

1 August 2017

title

Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy (English)

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1 August 2017

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5

Sabine Scholl-Bürgi

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1 August 2017

4

Daniela Karall

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1 August 2017

Birgit Krabichler

1

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1 August 2017

Kevin Rostasy

2

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1 August 2017

Matthias Baumann

3

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1 August 2017

Christoph Schwarzer

6

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1 August 2017

Kurt Gautsch

7

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1 August 2017

Ana Spreiz

8

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1 August 2017

Dieter Kotzot

9

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1 August 2017

Johannes Zschocke

10

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1 August 2017

Christine Fauth

11

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1 August 2017

Edda Haberlandt

12

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1 August 2017

language of work or name

English

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publication date

21 May 2012

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1 August 2017

published in

Annals of Human Genetics

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1 August 2017

volume

76

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1 August 2017

issue

4

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1 August 2017

page(s)

326-331

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Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 August 2017

cites work

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Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects

21 January 2018

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REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma

21 January 2018

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Targeting of protein ubiquitination by BTB–Cullin 3–Roc1 ubiquitin ligases

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Dramatic effect of levetiracetam on epileptic negative myoclonus

21 January 2018

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Levetiractam in the treatment of two children with myoclonic status epilepticus

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

A new human gene KCNRG encoding potassium channel regulating protein is a cancer suppressor gene candidate located in 13q14.3.

21 January 2018

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Scaffolding of Keap1 to the actin cytoskeleton controls the function of Nrf2 as key regulator of cytoprotective phase 2 genes

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Neurological channelopathies: new insights into disease mechanisms and ion channel function

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In-depth mutational analysis of the promyelocytic leukemia zinc finger BTB/POZ domain reveals motifs and residues required for biological and transcriptional functions

21 January 2018

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The polar T1 interface is linked to conformational changes that open the voltage-gated potassium channel

21 January 2018

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The BTB protein MEL-26 is a substrate-specific adaptor of the CUL-3 ubiquitin-ligase.

21 January 2018

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Mechanisms of human inherited epilepsies

21 January 2018

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Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit

21 January 2018

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ALOHOMORA: a tool for linkage analysis using 10K SNP array data

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Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

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Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-1809.2012.00710.X

Mutation of a potassium channel-related gene in progressive myoclonic epilepsy

21 January 2018

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21 January 2018

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Design, synthesis and characterization of a peptide able to bind proteins of the KCTD family: implications for KCTD-cullin 3 recognition

21 January 2018

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10.1111/J.1469-1809.2012.00710.X

21 January 2018

Identifiers

DOI

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1 August 2017

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