CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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CDKL5 variants: Improving our understanding of a rare neurologic disorder.

@en

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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CDKL5 variants: Improving our understanding of a rare neurologic disorder.

@en

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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P1476

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

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P2093

Angus Clarke

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Friederike Hennig

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Helen Leonard

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Jenny Downs

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Judith Armstrong

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Mark E S Bailey

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Mercedes Pineda

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Stuart R Cobb

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Tim A Benke

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P2860

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

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

dbSNP: the NCBI database of genetic variation

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

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

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

Key clinical features to identify girls with CDKL5 mutations

P304

e200

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P31

scholarly article

P356

10.1212/NXG.0000000000000200

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Vera Kalscheuer

Ralph D Hector

P577

2017-12-15T00:00:00Z

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P698

29264392

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P932

5732004

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