(Q51889095)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

2

1 reference

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22 January 2020

Tiziana Pisano

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Salvatore Savasta

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Emilio Franzoni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

Anna Rita Ferrari

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

8

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1

Federico Melani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

author name string

Carla Marini

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

publication date

11 February 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

Developmental Medicine and Child Neurology

22 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

issue

4

1 reference

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22 January 2020

page(s)

354-360

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21309761%20AND%20SRC:MED&resulttype=core&format=json

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

22 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

Myoclonic encephalopathy in the CDKL5 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X

Electroclinical signs of benign neonatal familial convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03889.X