CDKL5 alterations lead to early epileptic encephalopathy in both genders. (Q49032666)

17 February 2018

title

CDKL5 alterations lead to early epileptic encephalopathy in both genders. (English)

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17 February 2018

author

Tohru Okanishi

8

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author name string

Jao-Shwann Liang

1

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Keiko Shimojima

2

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Rumiko Takayama

3

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Jun Natsume

4

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Minobu Shichiji

5

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Kyoko Hirasawa

6

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Kaoru Imai

7

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Seiji Mizuno

9

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Akihisa Okumura

10

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Midori Sugawara

11

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Tomoshiro Ito

12

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Hiroko Ikeda

13

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Yukitoshi Takahashi

14

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Hirokazu Oguni

15

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Katsumi Imai

16

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Makiko Osawa

17

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Toshiyuki Yamamoto

18

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publication date

19 July 2011

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17 February 2018

published in

Epilepsia

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17 February 2018

volume

52

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issue

10

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page(s)

1835-1842

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

cites work

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

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The three stages of epilepsy in patients with CDKL5 mutations

21 January 2018

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Key clinical features to identify girls with CDKL5 mutations

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03174.X

Epilepsy caused by CDKL5 mutations.

21 January 2018

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

21 January 2018

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Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

21 January 2018

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

21 January 2018

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CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY

21 January 2018

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MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

21 January 2018

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Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2.

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Epileptic encephalopathies: a brief overview

21 January 2018

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21 January 2018

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Genomic copy number variations at 17p13.3 and epileptogenesis.

21 January 2018

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

21 January 2018

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Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood

21 January 2018

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10.1111/J.1528-1167.2011.03174.X

21 January 2018

Identifiers

DOI

1 reference

17 February 2018

release_hyrqsp7b4reohcpirbws7xxhc4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hyrqsp7b4reohcpirbws7xxhc4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

21770923

1 reference

17 February 2018