(Q38689167)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sarah E Heron

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Chiao Xin Lim

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Michael G Ricos

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

language of work or name

English

0 references

publication date

6 January 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

4 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

217-225

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26740507%20AND%20SRC:MED&resulttype=core&format=json

Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro

4 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Human slack potassium channel mutations increase positive cooperativity between individual channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Mutations in KCNT1 cause a spectrum of focal epilepsies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Quinidine in the treatment of KCNT1-positive epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Lack of pathogenic mutations in six patients with MMPSI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

De novo SCN1A mutations in migrating partial seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Therapeutic hypothermia for refractory status epilepticus in a child with malignant migrating partial seizures of infancy and SCN1A mutation: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

SLC25A22 is a novel gene for migrating partial seizures in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

DNA methylation and mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

The evolution of gene expression levels in mammalian organs

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Congenital long QT syndrome presenting with a history of epilepsy: misdiagnosis or relationship between channelopathies of the heart and brain?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

NAD+ activates KNa channels in dorsal root ganglion neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Sodium-activated potassium current in cultured avian neurones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Potentiation of a transient outward current by Na+ influx in crayfish neurones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

A Na+-activated K+ current in cultured brain stem neurones from chicks.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Potassium current activated by intracellular sodium in quail trigeminal ganglion neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

A large, sustained Na(+)- and voltage-dependent K+ current in spinal neurons of the frog embryo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Na+-activated K+ current contributes to postexcitatory hyperpolarization in neocortical intrinsically bursting neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Sodium-dependent potassium channels of a Slack-like subtype contribute to the slow afterhyperpolarization in lamprey spinal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

The sodium-activated potassium channel Slack is required for optimal cognitive flexibility in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Potassium channel structure: domain by domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Potassium channel structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

The voltage-gated potassium channels and their relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Intracerebral recordings of nocturnal hyperkinetic seizures: demonstration of a longer duration of the pre-seizure sleep spindle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

The action potential in mammalian central neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

Autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103508