(Q28260149)

2

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Roberto Gaggero

3

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Elena Parodi

4

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Alice Pessagno

5

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Margherita Marchi

6

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Silvia Russo

7

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Edvige Veneselli

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

8

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language of work or name

English

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publication date

February 2008

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published in

Epilepsy Behavior

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volume

12

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issue

2

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page(s)

326-31

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

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.2007.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

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.2007.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

Myoclonic encephalopathy in the CDKL5 gene mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

Atypical forms of Rett syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2007.10.010

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YEBEH.2007.10.010

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

18063413

1 reference

Consolidated OpenCitations Corpus – April 2017