(Q54654702)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20728410%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Epilepsy in Rett syndrome: clinical and genetic features (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20728410%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

0 references

13

1 reference

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11 February 2020

Joussef Hayek

7

1 reference

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11 February 2020

Alessandra Renieri

9

1 reference

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11 February 2020

author name string

Maria Pintaudi

1

1 reference

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11 February 2020

Maria Grazia Calevo

2

1 reference

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11 February 2020

Aglaia Vignoli

3

1 reference

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11 February 2020

Elena Parodi

4

1 reference

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11 February 2020

Francesca Aiello

5

1 reference

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11 February 2020

Maria Giuseppina Baglietto

6

1 reference

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11 February 2020

Sabrina Buoni

8

1 reference

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11 February 2020

Silvia Russo

10

1 reference

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11 February 2020

Francesca Cogliati

11

1 reference

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11 February 2020

Lucio Giordano

12

1 reference

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11 February 2020

Edvige Veneselli

14

1 reference

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11 February 2020

publication date

21 August 2010

1 reference

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11 February 2020

1 reference

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11 February 2020

volume

19

1 reference

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11 February 2020

issue

3

1 reference

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11 February 2020

page(s)

296-300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20728410%20AND%20SRC:MED&resulttype=core&format=json

An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001

11 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

MECP2 mutations account for most cases of typical forms of Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

FOXG1 is responsible for the congenital variant of Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Predictors of seizure onset in Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Parental view of epilepsy in Rett Syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Seizures in Rett syndrome: an overview from a one-year calendar study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Treatment of epilepsy in Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Epilepsy and the natural history of Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Defining intractability: comparisons among published definitions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Key clinical features to identify girls with CDKL5 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

The three stages of epilepsy in patients with CDKL5 mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Rett syndrome: clinical and electrophysiologic aspects

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

People with MECP2 mutation-positive Rett disorder who converse.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2010.06.051