Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures (Q28116136)

26 June 2017

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures (English)

1 reference

Solute carrier family 12 member 5

26 June 2017

1 reference

cellular chloride ion homeostasis

GOA release 2020-03-11

1 reference

Malignant Migrating Partial Seizures in Infancy

GOA release 2020-03-11

1 reference

1 reference

2

1 reference

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1 June 2020

Arnaud J Ruiz

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1 reference

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1 June 2020

Juan Zhen

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1 reference

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1 June 2020

Irene Farabella

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1 reference

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1 June 2020

Paul Gissen

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1 reference

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1 June 2020

Stephanie Schorge

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1 reference

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1 June 2020

Maya Topf

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1 reference

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1 June 2020

Dimitri Kullmann

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Robert J. Harvey

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

23

Ingrid E Scheffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hiromi Hirata

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1 reference

ORCID Public Data File 2021

Annapurna Poduri

22

object named as

Annapurna Poduri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Tommy Stödberg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Philip Long

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Esther Meyer

8

1 reference

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1 June 2020

Grace Vassallo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Henrik Stranneheim

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Stephanie Tigerschiöld

14

1 reference

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1 June 2020

Bengt Persson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Iftikhar Bangash

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Krishna Das

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Deborah Hughes

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Nicole Lesko

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Joakim Lundeberg

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1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Holly Smith

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Anna Wedell

31

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Atsuo Kawahara

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Stavros M Stivaros

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Magnus K Bjursell

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Rod C Scott

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Maarten E A Reith

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Manju A Kurian

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

3 September 2015

1 reference

26 June 2017

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

8038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

1 June 2020

copyright license

start time

3 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

20 March 2017

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The K+/Cl- co-transporter KCC2 renders GABA hyperpolarizing during neuronal maturation

20 March 2017

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20 March 2017

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Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition

20 March 2017

1 reference

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An ion transport-independent role for the cation-chloride cotransporter KCC2 in dendritic spinogenesis in vivo

20 March 2017

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20 March 2017

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7 April 2017

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Excitatory actions of gaba during development: the nature of the nurture

7 April 2017

1 reference

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Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

7 April 2017

1 reference

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Activity-dependent regulation of the K/Cl transporter KCC2 membrane diffusion, clustering, and function in hippocampal neurons

29 September 2017

1 reference

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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

29 September 2017

1 reference

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

29 September 2017

1 reference

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K+-Cl- cotransporter-2 KCC2 in chicken cardiomyocytes

29 September 2017

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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

29 September 2017

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29 September 2017

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Oligomerization of KCC2 correlates with development of inhibitory neurotransmission.

29 September 2017

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Slow endogenous activity transients and developmental expression of K+-Cl- cotransporter 2 in the immature human cortex.

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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2 June 2018

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2 June 2018

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Mutations in the K+/Cl- cotransporter gene kazachoc (kcc) increase seizure susceptibility in Drosophila.

27 November 2018

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Modulation of mammalian dendritic GABA(A) receptor function by the kinetics of Cl- and HCO3- transport.

27 November 2018

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Primary cultures of mouse spinal cord express the neonatal isoform of the inhibitory glycine receptor

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26333769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic heterogeneity in malignant migrating partial seizures of infancy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26333769

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS9038

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

ADS bibcode

2015NatCo...6.8038S

0 references

1019197527

0 references

OpenCitations bibliographic resource ID

2703524

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2703524

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26333769%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

1 reference