Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

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Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

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http://www.wikidata.org/entity/Q47368962

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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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Severe infantile onset develop ...... tions in autophagy gene WDR45.

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Severe infantile onset develop ...... tions in autophagy gene WDR45.

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label

Severe infantile onset develop ...... tions in autophagy gene WDR45.

@en

Severe infantile onset develop ...... tions in autophagy gene WDR45.

@nl

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Severe infantile onset develop ...... tions in autophagy gene WDR45.

@en

Severe infantile onset develop ...... tions in autophagy gene WDR45.

@nl

P1476

Severe infantile onset develop ...... tions in autophagy gene WDR45.

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P2093

Aijie Liu

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Amy Lacroix

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Amy Schneider

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Gemma L Carvill

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Geoffrey Wallace

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Heather C Mefford

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Ingrid E Scheffer

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Jacinta M McMahon

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Jing Zhang

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Luis Bello-Espinosa

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P2860

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

WDR45 mutations in three male patients with West syndrome.

Newly characterized forms of neurodegeneration with brain iron accumulation.

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

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e5-e13

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scholarly article

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10.1111/EPI.13957

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P478

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S Mandelstam

Michaela Waak

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2017-11-24T00:00:00Z

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P698

29171013

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5760358

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