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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures(Q29147423)

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English	Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures	scientific journal article

Statements

scholarly article

1 reference

PubMed publication ID

4 April 2017

Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures(English)

1 reference

PubMed publication ID

4 April 2017

autism spectrum disorder

0 references

0 references

Sodium voltage-gated channel alpha subunit 2

1 reference

GOA release 2020-03-11

voltage-gated sodium channel activity

1 reference

GOA release 2020-03-11

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Stephan J. Sanders

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

author name string

Roy Ben-Shalom

1

2 references

PubMed publication ID

4 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Caroline M Keeshen

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Kiara N Berrios

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Kevin J Bender

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

publication date

27 January 2017

1 reference

PubMed publication ID

4 April 2017

language of work or name

0 references

Biological Psychiatry

2 references

PubMed publication ID

4 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

82

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

224-232

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

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GABAergic interneurons form transient layer-specific circuits in early postnatal neocortex

1 reference

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Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

1 reference

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First glimpses of the neurobiology of autism spectrum disorder.

1 reference

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

1 reference

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Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

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Genotype to phenotype relationships in autism spectrum disorders

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Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly

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'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

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The contribution of de novo coding mutations to autism spectrum disorder

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Synaptic, transcriptional and chromatin genes disrupted in autism

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Molecular identity of axonal sodium channels in human cortical pyramidal cells

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Action potential initiation in neocortical inhibitory interneurons.

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Analysis of copy number variations at 15 schizophrenia-associated loci.

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An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current

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The Spike-Timing Dependence of Plasticity

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State and location dependence of action potential metabolic cost in cortical pyramidal neurons

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Polarised localisation of the voltage-gated sodium channel Na(v)1.2 in cerebellar granule cells

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

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The Physiology of the Axon Initial Segment

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Signal Processing in the Axon Initial Segment

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De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

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Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

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Action potentials: to the nucleus and beyond.

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1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.BIOPSYCH.2017.01.009

2 references

PubMed publication ID

4 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

PubMed publication ID

2 references

PubMed publication ID

4 April 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28256214%20AND%20SRC:MED&resulttype=core&format=json

14 June 2020

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