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

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scholarly article

1 reference

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

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

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Europe PubMed Central

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14 June 2020

Stephan J. Sanders

5

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14 June 2020

author name string

Roy Ben-Shalom

1

2 references

4 April 2017

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14 June 2020

Caroline M Keeshen

2

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14 June 2020

Kiara N Berrios

3

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14 June 2020

Kevin J Bender

6

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14 June 2020

language of work or name

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publication date

27 January 2017

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4 April 2017

Biological Psychiatry

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4 April 2017

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14 June 2020

82

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14 June 2020

3

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14 June 2020

224-232

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

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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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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.

1 reference

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Action potentials: to the nucleus and beyond.

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Action potential generation requires a high sodium channel density in the axon initial segment

1 reference

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1 reference

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12 December 2020

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10.1016/J.BIOPSYCH.2017.01.009

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4 April 2017

Europe PubMed Central

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14 June 2020

1 reference

Europe PubMed Central

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

14 June 2020

2 references

4 April 2017

Europe PubMed Central

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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