(Q47340224)

http://europepmc.org/abstract/PMC/5754647

14 January 2018

title

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy (English)

1 reference

http://europepmc.org/abstract/PMC/5754647

14 January 2018

author

Amy McTague

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Maya Topf

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

24

Ingrid E Scheffer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

23

Annapurna Poduri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Umesh Nair

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sony Malhotra

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Esther Meyer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Natalie Trump

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Elena V Gazina

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Apostolos Papandreou

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Adeline Ngoh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sally Ackermann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gautam Ambegaonkar

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Richard Appleton

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Archana Desurkar

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Christin Eltze

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Rachel Kneen

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Ajith V Kumar

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Karine Lascelles

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Tara Montgomery

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Venkateswaran Ramesh

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Rajib Samanta

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Richard H Scott

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Jeen Tan

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

William Whitehouse

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

W K Kling Chong

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

J Helen Cross

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Steven Petrou

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Manju A Kurian

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

1 December 2017

1 reference

http://europepmc.org/abstract/PMC/5754647

14 January 2018

published in

Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

e55-e66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

A targeted resequencing gene panel for focal epilepsy.

11 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=5754647

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Quinidine in the treatment of KCNT1-positive epilepsies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Human slack potassium channel mutations increase positive cooperativity between individual 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=5754647

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=5754647

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

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=5754647

Slack, Slick and 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=5754647

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe 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=5754647

De novo mutations in epileptic encephalopathies

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

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=5754647

Accelerated Profile HMM Searches

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Mitochondrial dysfunction in 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=5754647

Structure of the human BK channel Ca2+-activation apparatus at 3.0 A resolution

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

The Pfam protein families database

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

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=5754647

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Amino-termini isoforms of the Slack K+ channel, regulated by alternative promoters, differentially modulate rhythmic firing and adaptation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in 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=5754647

Life-threatening vasculitis related to quinidine occurring in a healthy volunteer during a clinical trial

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Quinidine therapy for West syndrome with KCNTI mutation: A case report.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Mutations in KCNT1 cause a spectrum of focal epilepsies.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5754647

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe 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=5754647

Targeted treatment of migrating partial seizures of infancy with quinidine

1 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29196579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29196579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000004762

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29196579%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference