Partial deletion of DEPDC5 in a child with focal epilepsy.

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Partial deletion of DEPDC5 in a child with focal epilepsy.

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http://www.wikidata.org/entity/Q55316725

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

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Partial deletion of DEPDC5 in a child with focal epilepsy.

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Partial deletion of DEPDC5 in a child with focal epilepsy.

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Item

label

Partial deletion of DEPDC5 in a child with focal epilepsy.

@en

Partial deletion of DEPDC5 in a child with focal epilepsy.

@nl

prefLabel

Partial deletion of DEPDC5 in a child with focal epilepsy.

@en

Partial deletion of DEPDC5 in a child with focal epilepsy.

@nl

P1476

Partial deletion of DEPDC5 in a child with focal epilepsy

@en

P2093

Claudio Zucca

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Joris Andrieux

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Marion Gerard

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Nicoletta Zanotta

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Roberta Epifanio

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Susan Marelli

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P2860

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Copy number variation plays an important role in clinical epilepsy.

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

The human cleavage stage embryo is a cradle of chromosomal rearrangements.

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos.

P304

140-144

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P31

scholarly article

P356

10.1002/EPI4.12012

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P433

3-4

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P478

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P50

Roberto Giorda

Maria Clara Bonaglia

Sara Bertuzzo

P577

2016-08-25T00:00:00Z

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P698

29588938

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P932

5719828

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