(Q48165076)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26122718%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

Mutations in KCNT1 cause a spectrum of focal epilepsies (English)

1 reference

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18 February 2020

1

1 reference

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18 February 2020

Gabriel M Ronen

11

1 reference

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18 February 2020

Pasquale Striano

19

1 reference

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18 February 2020

Federico Zara

21

1 reference

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18 February 2020

Elena Gardella

24

1 reference

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18 February 2020

Leanne Dibbens

31

1 reference

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18 February 2020

28

Ingrid E Scheffer

1 reference

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18 February 2020

29

Boudewijn Gunning

1 reference

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18 February 2020

18

Annapurna Poduri

1 reference

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18 February 2020

16

Heather C Mefford

1 reference

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18 February 2020

13

Jacinta M McMahon

1 reference

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18 February 2020

2

Sarah E Heron

1 reference

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18 February 2020

17

Rima Nabbout

1 reference

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18 February 2020

15

Gemma L Carvill

1 reference

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18 February 2020

25

Marina Nikanorova

1 reference

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18 February 2020

author name string

Line H G Larsen

3

1 reference

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18 February 2020

Chiao Xin Lim

4

1 reference

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18 February 2020

Michael G Ricos

5

1 reference

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18 February 2020

Marta A Bayly

6

1 reference

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18 February 2020

Marjan J A van Kempen

7

1 reference

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18 February 2020

Sylvia Klinkenberg

8

1 reference

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18 February 2020

Ian Andrews

9

1 reference

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18 February 2020

Kent Kelley

10

1 reference

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18 February 2020

David Callen

12

1 reference

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18 February 2020

Simone C Yendle

14

1 reference

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18 February 2020

Maria G Baglietto

20

1 reference

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18 February 2020

Nicholas J Smith

22

1 reference

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18 February 2020

Clair Pridmore

23

1 reference

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18 February 2020

Hans Atli Dahl

26

1 reference

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18 February 2020

Pia Gellert

27

1 reference

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18 February 2020

Bente Kragh-Olsen

30

1 reference

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18 February 2020

publication date

30 June 2015

1 reference

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18 February 2020

1 reference

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18 February 2020

volume

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26122718%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

issue

9

1 reference

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18 February 2020

page(s)

e114-20

1 reference

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Human slack potassium channel mutations increase positive cooperativity between individual channels

18 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

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

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

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

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

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

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

For K+ channels, Na+ is the new Ca2+.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

DNA methylation and mutation

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5915334

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

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FEPI.13071

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FEPI.13071

21 January 2018

Identifiers

DOI

10.1111/EPI.13071

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26122718%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference

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18 February 2020

PubMed publication ID

26122718

1 reference