(Q46716121)

English

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

scientific article published on 7 November 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

Emanuela Leonardi

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

Stefano Sartori

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

author name string

E Bettella

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

G Di Rosa

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

R Polli

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

G Tortorella

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

A Murgia

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

publication date

7 November 2012

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

84

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

82-85

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

ARX spectrum disorders: making inroads into the molecular pathology

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

ARX: a gene for all seasons

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Expansion of the ARX spectrum.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

A new paradigm for West syndrome based on molecular and cell biology

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

The aristaless (Arx) gene: one gene for many "interneuronopathies".

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12034

21 January 2018

Identifiers

10.1111/CGE.12034

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23039062

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