Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (Q36615476)

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3 March 2020

title

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy (English)

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2

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Nanna Witting

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Michael T Gabbett

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Karen Joan Suetterlin

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Luigi D'Argenzio

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Xin Cynthia Ye

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Nigel G Laing

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Hilary Vallance

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Roope Mannikko

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Michael G Hanna

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John Vissing

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Erik-Jan Kamsteeg

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Francesco Muntoni

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author name string

Irina T Zaharieva

1

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Emily C Oates

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Clara van Karnebeek

4

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Glenda Hendson

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Eveline Blom

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Magnhild Rasmussen

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Maria Sframeli

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Emma Matthews

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Matthew Pitt

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Martin Ballegaard

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Andreas Slørdahl

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Lin-Hua Zhang

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Ulla Werlauff

26

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Mena Abdelsayed

27

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Mark R Davis

28

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Lucy Feng

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Rahul Phadke

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Caroline A Sewry

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Jennifer E Morgan

32

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Peter Ruben

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Suzanne Lewis

37

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language of work or name

English

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publication date

22 December 2015

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3 March 2020

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3 March 2020

volume

139

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issue

Pt 3

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3 March 2020

page(s)

674-691

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Channelopathies of skeletal muscle excitability

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic 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=4766374

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Congenital myopathies: an update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Fetal akinesia: review of the genetics of the neuromuscular causes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Neonatal hypotonia can be a sodium channelopathy: recognition of a new phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Human skeletal muscle sodium channelopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Myasthenic syndrome caused by mutation of the SCN4A sodium channel

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

The dystrophin-associated protein complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Specific interactions between the syntrophin PDZ domain and 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=4766374

Studies on Tetrodotoxin Resistant Action Potentials in Denervated Skeletal Muscle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Tetrodotoxin-resistant Action Potentials in Newborn Rat Muscle

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Primary structure and functional expression of a mammalian skeletal muscle sodium channel

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Functional differences between two classes of sodium channels in developing rat skeletal muscle.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Diagnostic exome sequencing in persons with severe intellectual disability

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Calmodulin binds to the C terminus of sodium channels Nav1.4 and Nav1.6 and differentially modulates their functional properties.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

A mutation in the human ryanodine receptor gene associated with central core disease

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4766374

Structural parts involved in activation and inactivation of the sodium channel

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV352

21 January 2018

Congenital myopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26700687

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWV352

1 reference

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3 March 2020

1 reference

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3 March 2020

PubMed publication ID

26700687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26700687%20AND%20SRC:MED&resulttype=core&format=json