(Q47094010)

http://europepmc.org/abstract/PMC/5687820

7 January 2018

title

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy (English)

1 reference

http://europepmc.org/abstract/PMC/5687820

7 January 2018

main subject

Potassium sodium-activated channel subfamily T member 2

1 reference

potassium ion export across plasma membrane

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Elizabeth E Palmer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Marcel E. Dinger

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Mark J. Cowley

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Edwin P. Kirk

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Sushmitha Gururaj

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Garrett D Sheehan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Tejaswi Kandula

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Rebecca Macintosh

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Kevin Ying

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Paula Morris

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Jiang Tao

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Kerith-Rae Dias

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Ying Zhu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Tony Roscioli

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Rani Sachdev

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Michael E Duffey

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Ann Bye

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Arin Bhattacharjee

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

1 October 2017

1 reference

http://europepmc.org/abstract/PMC/5687820

7 January 2018

published in

Cell Reports

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

926-933

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Hydrophobic interactions between the S5 segment and the pore helix stabilizes the closed state of Slo2.1 potassium channels

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Genetics of Epilepsy in Clinical Practice

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Transcriptional Regulation of the Sodium-activated Potassium Channel SLICK (KCNT2) Promoter by Nuclear Factor-κB.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Cell volume changes regulate slick (Slo2.1), but not slack (Slo2.2) K+ channels

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Emerging role of the KCNT1 Slack channel in intellectual disability

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Distribution and medical impact of loss-of-function variants in the Finnish founder population

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Structural basis of ion permeation gating in Slo2.1 K+ channels

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Epileptic encephalopathies: an overview

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Gene expression analysis of the embryonic subplate

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Activation of Slo2.1 channels by niflumic acid

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

The N-terminal domain of Slack determines the formation and trafficking of Slick/Slack heteromeric sodium-activated potassium channels

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

NAD+ activates KNa channels in dorsal root ganglion neurons.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Differential transactivation of sphingosine-1-phosphate receptors modulates NGF-induced neurite extension

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

PKA-induced internalization of slack KNa channels produces dorsal root ganglion neuron hyperexcitability

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Localization of the Na+-activated K+ channel Slick in the rat central nervous system.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Localization of the Slack potassium channel in the rat central nervous system.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Distinctive neurophysiological properties of embryonic trigeminal and geniculate neurons in culture

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Functional effects of the mouse weaver mutation on G protein-gated inwardly rectifying K+ channels

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5687820

Niflumic and flufenamic acids are potent reversible blockers of Ca2(+)-activated Cl- channels in Xenopus oocytes

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29069600

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29069600

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29069600

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELREP.2017.09.088

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29069600%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

PubMed publication ID

29069600

1 reference