Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene. (Q46252435)

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12 March 2020

title

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene (English)

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3

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Davide Mei

5

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Valerio Conti

1

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Maria A Pantaleo

2

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Sabrina Giglio

7

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Seung Tae Baek

9

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author name string

G Baroni

4

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A M Buccoliero

6

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F Giordano

8

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J G Gleeson

10

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R Guerrini

11

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publication date

7 October 2014

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volume

88

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page(s)

241-247

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issue

3

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The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

12 March 2020

cites work

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Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

21 January 2018

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

21 January 2018

1 reference

Somatic activation of AKT3 causes hemispheric developmental brain malformations

21 January 2018

1 reference

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

21 January 2018

1 reference

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

21 January 2018

1 reference

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 January 2018

1 reference

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

21 January 2018

1 reference

Differential Pi3K-pathway activation in cortical tubers and focal cortical dysplasias with balloon cells.

21 January 2018

1 reference

Role for Akt3/protein kinase Bgamma in attainment of normal brain size

21 January 2018

1 reference

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

21 January 2018

1 reference

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q.

21 January 2018

1 reference

Recurrent genomic instability of chromosome 1q in neural derivatives of human embryonic stem cells

21 January 2018

1 reference

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

Mosaic copy number variation in human neurons

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12476

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12 March 2020

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