Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene (Q34969098)

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29 February 2020

title

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene (English)

1 reference

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29 February 2020

1 reference

Maria Cristina D'Adamo

1

1 reference

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29 February 2020

Stephen J. Tucker

5

1 reference

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29 February 2020

Alessandro Grottesi

8

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29 February 2020

Paola Imbrici

10

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29 February 2020

Pia Bernasconi

11

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29 February 2020

Giuseppe Di Giovanni

12

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29 February 2020

Luigi Catacuzzeno

14

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29 February 2020

Mauro Pessia

15

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29 February 2020

author name string

Constanze Gallenmüller

2

1 reference

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29 February 2020

Ilenio Servettini

3

1 reference

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29 February 2020

Elisabeth Hartl

4

1 reference

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29 February 2020

Larissa Arning

6

1 reference

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29 February 2020

Saskia Biskup

7

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29 February 2020

Luca Guglielmi

9

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29 February 2020

Fabio Franciolini

13

1 reference

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29 February 2020

Thomas Klopstock

16

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29 February 2020

publication date

1 January 2014

1 reference

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29 February 2020

published in

Frontiers in Physiology

1 reference

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29 February 2020

volume

5

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29 February 2020

page(s)

525

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GROMACS 4: Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation

29 February 2020

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1 reference

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Opening paths to novel analgesics: the role of potassium channels in chronic pain

8 July 2018

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K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy

8 July 2018

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8 July 2018

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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.

8 July 2018

1 reference

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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature

8 July 2018

1 reference

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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

8 July 2018

1 reference

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A Gating Charge Transfer Center in Voltage Sensors

8 July 2018

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A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

8 July 2018

1 reference

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A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction

8 July 2018

1 reference

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A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1

8 July 2018

1 reference

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Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment

8 July 2018

1 reference

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Sleep in Kcna2 knockout mice

8 July 2018

1 reference

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Crystal structure of a Kir3.1-prokaryotic Kir channel chimera

8 July 2018

1 reference

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Reduced sleep in Drosophila Shaker mutants

8 July 2018

1 reference

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Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

8 July 2018

1 reference

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MUSCLE: multiple sequence alignment with high accuracy and high throughput

8 July 2018

1 reference

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Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels

8 July 2018

1 reference

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A mouse model of episodic ataxia type-1

8 July 2018

1 reference

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

8 July 2018

1 reference

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The lipid-protein interface of a Shaker K(+) channel

8 July 2018

1 reference

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Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function

8 July 2018

1 reference

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

8 July 2018

2 references

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8 July 2018

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Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295438

AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR

8 July 2018

1 reference

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Episodic ataxia results from voltage-dependent potassium channels with altered functions

8 July 2018

1 reference

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Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13

8 July 2018

1 reference

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Voltage-gated K+ channel beta subunits: expression and distribution of Kv beta 1 and Kv beta 2 in adult rat brain

8 July 2018

1 reference

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Comparative protein modelling by satisfaction of spatial restraints

8 July 2018

1 reference

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

8 July 2018

1 reference

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Modulation of K+ current by frequency and external [K+]: a tale of two inactivation mechanisms.

8 July 2018

1 reference

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Divalent ion trapping inside potassium channels of human T lymphocytes

8 July 2018

1 reference

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Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain

8 July 2018

1 reference

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Two types of inactivation in Shaker K+ channels: effects of alterations in the carboxy-terminal region.

8 July 2018

1 reference

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Extracellular K+ specifically modulates a rat brain K+ channel

8 July 2018

1 reference

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An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+.

8 July 2018

1 reference

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Dynamic control of presynaptic Ca(2+) inflow by fast-inactivating K(+) channels in hippocampal mossy fiber boutons.

21 January 2018

1 reference

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Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2014.00525

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2014.00525

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.3389%2FFPHYS.2014.00525

Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.

21 January 2018

1 reference

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Effects of external cations and mutations in the pore region on C-type inactivation of Shaker potassium channels

21 January 2018

1 reference

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Mechanism of frequency-dependent broadening of molluscan neurone soma spikes

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25642194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pore mutations in Shaker K+ channels distinguish between the sites of tetraethylammonium blockade and C-type inactivation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25642194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hereditary myokymia and periodic ataxia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25642194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FPHYS.2014.00525

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25642194%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25642194%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25642194%20AND%20SRC:MED&resulttype=core&format=json