De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy (Q30540814)

17 August 2017

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

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17 August 2017

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Jean-Laurent Casanova

14

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24 June 2017

16

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Nathalie Boddaert

13

Nathalie Boddaert

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Patrick Nitschké

11

Patrick Nitschke

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Giulia Barcia

Giulia Barcia

1

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Anna Kaminska

Anna Kaminska

12

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Laurence Colleaux

Laurence Colleaux

19

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Maéva Langouët

6

Maeva Langouet

1 reference

17 August 2017

15

Isabelle Desguerre

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17 August 2017

9

Avinash Abhyankar

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17 August 2017

17

Olivier Dulac

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17 August 2017

20

Rima Nabbout

1 reference

17 August 2017

Matthew R Fleming

2

1 reference

17 August 2017

Aline Deligniere

3

1 reference

17 August 2017

Valeswara-Rao Gazula

4

1 reference

17 August 2017

Maile R Brown

5

1 reference

17 August 2017

Haijun Chen

7

1 reference

17 August 2017

Jack Kronengold

8

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17 August 2017

Roberta Cilio

10

1 reference

17 August 2017

Patrick Nitschke

11

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17 August 2017

Leonard K Kaczmarek

18

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17 August 2017

language of work or name

English

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publication date

21 October 2012

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17 August 2017

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17 August 2017

44

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17 August 2017

1255-1259

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17 August 2017

11

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

De novo SCN1A mutations in migrating partial seizures of infancy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Intellectual disability without epilepsy associated with STXBP1 disruption

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Epilepsy genetics--past, present, and future

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Whole-exome-sequencing-based discovery of human FADD deficiency

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Mutations in ARX Result in Several Defects Involving GABAergic Neurons

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Use of optical biosensors to detect modulation of Slack potassium channels by G protein-coupled receptors

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

The Sequence Alignment/Map format and SAMtools

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Fast and accurate short read alignment with Burrows-Wheeler transform

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Epileptic syndromes in infancy and childhood

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Non-conducting functions of voltage-gated ion channels

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Malignant migrating partial seizures in infancy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Saturation of neuroprotective effects of adenosine in cortical culture

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Migrating partial seizures in infancy: two new cases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Electric field-induced functional reductions in the K+ channels mainly resulted from supramembrane potential-mediated electroconformational changes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.

14 July 2018

1 reference

Successful control with bromide of two patients with malignant migrating partial seizures in infancy.

21 January 2018

1 reference

Malignant migrating partial seizures in infancy.

21 January 2018

1 reference

Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome.

21 January 2018

1 reference

Levetiracetam in a neonate with malignant migrating partial seizures

21 January 2018

1 reference

Vagus nerve stimulation (VNS) is effective in treating catastrophic 1 epilepsy in very young children.

21 January 2018

1 reference

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

21 January 2018

1 reference

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy.

21 January 2018

1 reference

The sodium-activated potassium channel Slack is modulated by hypercapnia and acidosis.

21 January 2018

1 reference

Slack and Slick K(Na) channels regulate the accuracy of timing of auditory neurons.

21 January 2018

1 reference

Benign familial neonatal convulsions: always benign?

21 January 2018

1 reference

Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex.

21 January 2018

1 reference

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

21 January 2018

1 reference

Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

Effects of tetramethylpyrazine on large-conductance Ca²⁺-activated potassium channels in porcine coronary artery smooth muscle cells

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3687547

The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy

26 November 2018

1 reference

12 December 2020

Focal seizures versus focal epilepsy in infancy: a challenging distinction

1 reference

12 December 2020

Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits

1 reference

12 December 2020

Malignant migrating partial seizures in a 4-month-old boy

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2441

1 reference

17 August 2017

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17 August 2017

1 reference