(Q51804552)

English

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life.

scientific article published on 11 April 2011

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Stefano Sartori

1

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Francesca Darra

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Francesca Darra

12

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Bernardo Dalla Bernardina

13

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Bernardo Dalla Bernardina

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

author name string

Roberta Polli

2

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Europe PubMed Central

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12 April 2018

http://europepmc.org/abstract/MED/21482751

Elisa Bettella

3

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Sara Rossato

4

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Wainer Andreoli

5

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Europe PubMed Central

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12 April 2018

http://europepmc.org/abstract/MED/21482751

Marilena Vecchi

6

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Lucio Giordano

7

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Patrizia Accorsi

8

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Europe PubMed Central

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12 April 2018

http://europepmc.org/abstract/MED/21482751

Gabriella Di Rosa

9

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Europe PubMed Central

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12 April 2018

http://europepmc.org/abstract/MED/21482751

Irene Toldo

10

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Nelia Zamponi

11

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Giorgio Perilongo

14

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Clementina Boniver

15

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Alessandra Murgia

16

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

publication date

11 April 2011

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Journal of Child Neurology

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12 April 2018

http://europepmc.org/abstract/MED/21482751

26

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

6

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Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

683-691

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

Epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

ILAE classification of epilepsy syndromes

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Myoclonic encephalopathy in the CDKL5 gene mutation.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

The three stages of epilepsy in patients with CDKL5 mutations

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Key clinical features to identify girls with CDKL5 mutations

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Early onset seizures and Rett-like features associated with mutations in CDKL5.

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

1 reference

https://api.crossref.org/works/10.1177%2F0883073810387827

21 January 2018

Identifiers

10.1177/0883073810387827

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 April 2018

http://europepmc.org/abstract/MED/21482751

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