(Q36451955)

14 August 2017

Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression (English)

1 reference

14 August 2017

1 reference

1 reference

Christopher H Thompson

1

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14 August 2017

J Christopher Porter

2

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14 August 2017

Kristopher M Kahlig

3

1 reference

14 August 2017

Melissa A Daniels

4

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14 August 2017

Alfred L George

5

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14 August 2017

language of work or name

English

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publication date

19 October 2012

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14 August 2017

8

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Journal of Biological Chemistry

inferred from page(s)

published in

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14 August 2017

287

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14 August 2017

50

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14 August 2017

42001-42008

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describes a project that uses

14 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3516746/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Pharmacological therapy for cystic fibrosis: from bench to bedside

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

NaV1.1 channels and epilepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Multiplexed transposon-mediated stable gene transfer in human cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

A catalog of SCN1A variants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Divergent sodium channel defects in familial hemiplegic migraine

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Rescue of DeltaF508-CFTR trafficking and gating in human cystic fibrosis airway primary cultures by small molecules

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Sodium channel mutations in epilepsy and other neurological disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Inherited disorders of voltage-gated sodium channels

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

SCN1A mutations and epilepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Molecular basis of an inherited epilepsy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Sodium channel beta subunits: anything but auxiliary

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Correction of defective protein trafficking of a mutant HERG potassium channel in human long QT syndrome. Pharmacological and temperature effects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Antiepileptic drug-induced worsening of seizures in children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516746

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23086956

12 December 2020

inferred from PubMed ID database lookup

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23086956

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1074/JBC.M112.421883

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23086956

1 reference