(Q51544491)

English

Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures

scientific article published on August 2, 2010

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

Disruption of the SCN2A and SCN3A genes in a patient with mental retardation, neurobehavioral and psychiatric abnormalities, and a history of infantile seizures (English)

1 reference

10.1111/J.1399-0004.2010.01526.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01526.X

4 July 2024

author name string

Pawel Stankiewicz

5

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

M. Bartnik

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807223

4 July 2024

A. Chun-Hui Tsai

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807223

4 July 2024

Z. Xia

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807223

4 July 2024

S. W. Cheung

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20807223

4 July 2024

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20807223

4 July 2024

publication date

2 August 2010

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2010.01526.x

1 reference

10.1111/J.1399-0004.2010.01526.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01526.X

4 July 2024

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2010.01526.x

1 reference

10.1111/J.1399-0004.2010.01526.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01526.X

4 July 2024

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

80

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

2

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

191-195

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

Inherited disorders of voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: an array-based genotype-phenotype correlation and a comprehensive review of previously published cases

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

The spectrum of SCN1A-related infantile epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01526.X

21 January 2018

A novel SCN2A mutation in family with benign familial infantile seizures

11

1 reference

10.1111/J.1399-0004.2010.01526.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01526.X

4 July 2024

Identifiers

10.1111/J.1399-0004.2010.01526.X

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 April 2018

http://europepmc.org/abstract/MED/20807223

ResearchGate publication ID

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