KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine (Q34153268)

31 July 2017

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

1 reference

31 July 2017

Slavé Petrovski

11

0 references

Christopher A Reid

Christopher A Reid

7

0 references

Ingrid Scheffer

Ingrid E Scheffer

14

0 references

Samuel Berkovic

Samuel F Berkovic

15

0 references

Leanne Dibbens

13

Leanne M Dibbens

1 reference

31 July 2017

Carol J Milligan

1

1 reference

31 July 2017

Melody Li

2

1 reference

31 July 2017

Elena V Gazina

3

1 reference

31 July 2017

Sarah E Heron

4

1 reference

31 July 2017

Umesh Nair

5

1 reference

31 July 2017

Chantel Trager

6

1 reference

31 July 2017

Anu Venkat

8

1 reference

31 July 2017

Donald P Younkin

9

1 reference

31 July 2017

Dennis J Dlugos

10

1 reference

31 July 2017

David B Goldstein

12

1 reference

31 July 2017

Steven Petrou

16

1 reference

31 July 2017

14 April 2014

1 reference

31 July 2017

1 reference

31 July 2017

75

1 reference

31 July 2017

581-590

1 reference

31 July 2017

4

1 reference

Genic intolerance to functional variation and the interpretation of personal genomes

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

De novo mutations in epileptic encephalopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

A sodium-activated potassium channel supports high-frequency firing and reduces energetic costs during rapid modulations of action potential amplitude

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Clofilium inhibits Slick and Slack potassium channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

NAD+ activates KNa channels in dorsal root ganglion neurons.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Circadian clock feedback cycle through NAMPT-mediated NAD+ biosynthesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Pharmacological activation and inhibition of Slack (Slo2.2) channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Molecular diversity of voltage-gated sodium channel alpha and beta subunit mRNAs in human tissues

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Opposite regulation of Slick and Slack K+ channels by neuromodulators.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

The sodium-activated potassium channel is encoded by a member of the Slo gene family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Migrating partial seizures in infancy: a malignant disorder with developmental arrest.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Selective inhibition of potassium currents in rat ventricle by clofilium and its tertiary homolog.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

Subunit stoichiometry of a mammalian K+ channel determined by construction of multimeric cDNAs.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4158617

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

5 July 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

P2X7 purinoceptor expression in Xenopus oocytes is not sufficient to produce a pore-forming P2Z-like phenotype.

21 January 2018

1 reference

Sodium-dependent plateau potentials in electrocytes of the electric fish Gymnotus carapo.

21 January 2018

1 reference

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

21 January 2018

1 reference

Analysis of nonlinear tissue distribution of quinidine in rats by physiologically based pharmacokinetics

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24591078

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/24591078

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.24128

1 reference

31 July 2017

1 reference

31 July 2017

1 reference