The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy (Q28272644)

6

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John Christodoulou

object named as

John Christodoulou

14

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Jenny Downs

3

object named as

Jenny Downs

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author name string

Meredith Wilson

2

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Simon Williams

4

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Alessandra Murgia

5

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Marilena Vecchi

7

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Gladys Ho

8

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Roberta Polli

9

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Stavroula Psoni

10

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Xinhua Bao

11

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Nick de Klerk

12

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Helen Leonard

European Journal of Human Genetics

13

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language of work or name

English

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publication date

March 2013

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published in

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volume

21

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issue

3

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page(s)

266-73

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cites work

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Clinical phenotype of 5 females with a CDKL5 mutation.

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12 December 2020

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

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Is the girl with Rett syndrome normal at birth?

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Simultaneous onset of infantile spasms in monozygotic twins

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Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males

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Identifiers

DOI

10.1038/EJHG.2012.156

1 reference

Dimensions Publication ID

1044530968

0 references

1 reference

1 reference

PubMed publication ID

22872100

1 reference