Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy (Q24304239)

voltage-gated sodium channel activity

GOA release 2020-03-11

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GOA release 2020-03-11

author

Carolien G de Kovel

1

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2 June 2020

author name string

Miriam H Meisler

2

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Eva H Brilstra

3

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2 June 2020

Frederique M C van Berkestijn

4

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2 June 2020

Ruben van 't Slot

5

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Stef van Lieshout

6

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2 June 2020

Isaac J Nijman

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Janelle E O'Brien

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2 June 2020

Michael F Hammer

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2 June 2020

Mark Estacion

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Stephen G Waxman

11

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Sulayman D Dib-Hajj

12

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Bobby P C Koeleman

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2 June 2020

language of work or name

English

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publication date

November 2014

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published in

Epilepsy Research

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2 June 2020

volume

108

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2 June 2020

page(s)

1511-1518

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2 June 2020

issue

9

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De novo mutations in epileptic encephalopathies

2 June 2020

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PubMed

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12 December 2020

inferred from PubMed ID database lookup

Reduced expression of Na(v)1.6 sodium channels and compensation by Na(v)1.2 channels in mice heterozygous for a null mutation in Scn8a

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25239001

12 December 2020

inferred from PubMed ID database lookup

Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones

1 reference

PubMed

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12 December 2020

inferred from PubMed ID database lookup

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.EPLEPSYRES.2014.08.020

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.EPLEPSYRES.2014.08.020

2 references

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2 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25239001%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

2 references