CACNA1H mutations in autism spectrum disorders. (Q48509325)

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29 January 2020

title

CACNA1H mutations in autism spectrum disorders (English)

1 reference

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29 January 2020

main subject

autism spectrum disorder

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5

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29 January 2020

author name string

Igor Splawski

1

1 reference

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29 January 2020

Dana S Yoo

2

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29 January 2020

Stephanie C Stotz

3

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29 January 2020

Allison Cherry

4

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29 January 2020

Mark T Keating

6

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29 January 2020

language of work or name

English

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publication date

5 June 2006

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Journal of Biological Chemistry

29 January 2020

published in

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volume

281

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issue

31

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page(s)

22085-22091

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Epidemiological surveys of autism and other pervasive developmental disorders: an update

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1074/JBC.M603316200

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?

21 January 2018

1 reference

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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 January 2018

1 reference

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Review of animal models for autism: implication of thyroid hormone

21 January 2018

1 reference

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Molecular physiology of low-voltage-activated t-type calcium channels

21 January 2018

1 reference

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Sleep and arousal: thalamocortical mechanisms

21 January 2018

1 reference

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Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy

21 January 2018

1 reference

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Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy

21 January 2018

1 reference

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Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel

21 January 2018

1 reference

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The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

21 January 2018

1 reference

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Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

1 reference

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The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

1 reference

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Mutations in the hminK gene cause long QT syndrome and suppress lKs function

21 January 2018

1 reference

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Biography of Mark T. Keating

21 January 2018

1 reference

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Overexpression of T-type calcium channels in HEK-293 cells increases intracellular calcium without affecting cellular proliferation

21 January 2018

1 reference

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Brain anatomy and development in autism: review of structural MRI studies

21 January 2018

1 reference

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Voltage sensor of Kv1.2: structural basis of electromechanical coupling

21 January 2018

1 reference

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A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M603316200

21 January 2018

The genetics of autism

1 reference

https://api.crossref.org/works/10.1074/JBC.M603316200

Association between genetic variation of CACNA1H and childhood absence epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M603316200

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1074/JBC.M603316200

21 January 2018

Identifiers

DOI

10.1074/JBC.M603316200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16754686 AND SRC:MED&resulttype=core&format=json

29 January 2020

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