(Q28293847)

16

0 references

Nadia Bahi-Buisson

1

0 references

Nathalie Boddaert

5

Nathalie Boddaert

0 references

Alexis Arzimanoglou

Alexis Arzimanoglou

13

1 reference

ORCID Public Data File 2021

Delphine Héron

11

Delphine Héron

0 references

Alexandra Afenjar

9

Alexandra Afenjar

0 references

author name string

Juliette Nectoux

2

0 references

Haydeé Rosas-Vargas

3

0 references

Mathieu Milh

4

0 references

Benoit Girard

6

0 references

Claude Cances

7

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Dorothée Ville

8

0 references

Marlène Rio

10

0 references

Marie Ange N'guyen Morel

12

0 references

Christophe Philippe

14

0 references

Philippe Jonveaux

15

0 references

Thierry Bienvenu

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

17

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language of work or name

English

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publication date

October 2008

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published in

Brain

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volume

131

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issue

Pt 10

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page(s)

2647-61

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Myoclonic encephalopathy in the CDKL5 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Seizures and electroencephalographic findings in CDKL5 mutations: case report and review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Rett variants: a suggested model for inclusion criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

EEG development in Rett syndrome. A study of 30 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

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/10.1093%2FBRAIN%2FAWN197

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Epilepsy in a representative series of Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN197