Mutations in KCNT1 cause a spectrum of focal epilepsies. (Q48165076)

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18 February 2020

title

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

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18 February 2020

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Gabriel M Ronen

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Pasquale Striano

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Federico Zara

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Elena Gardella

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Leanne Dibbens

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Ingrid E Scheffer

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Boudewijn Gunning

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18 February 2020

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Annapurna Poduri

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18 February 2020

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Heather C Mefford

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18 February 2020

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Jacinta M McMahon

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18 February 2020

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Sarah E Heron

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18 February 2020

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Rima Nabbout

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Gemma L Carvill

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18 February 2020

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Marina Nikanorova

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18 February 2020

author name string

Line H G Larsen

3

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18 February 2020

Chiao Xin Lim

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18 February 2020

Michael G Ricos

5

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18 February 2020

Marta A Bayly

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18 February 2020

Marjan J A van Kempen

7

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Sylvia Klinkenberg

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Ian Andrews

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18 February 2020

Kent Kelley

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18 February 2020

David Callen

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18 February 2020

Simone C Yendle

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18 February 2020

Maria G Baglietto

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Nicholas J Smith

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Clair Pridmore

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Hans Atli Dahl

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Pia Gellert

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Bente Kragh-Olsen

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publication date

30 June 2015

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18 February 2020

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18 February 2020

volume

56

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18 February 2020

issue

9

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18 February 2020

page(s)

e114-20

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Human slack potassium channel mutations increase positive cooperativity between individual channels

18 February 2020

cites work

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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

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Crossref

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

21 January 2018

Identifiers

DOI

10.1111/EPI.13071

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18 February 2020

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18 February 2020

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