PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia (Q30300538)

12 August 2017

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia (English)

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12 August 2017

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16

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12 August 2017

Brian J O'Roak

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Jay Shendure

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object named as

Jay Shendure

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12 August 2017

Laura A Jansen

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12 August 2017

Ghayda M Mirzaa

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12 August 2017

Gisele E Ishak

3

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12 August 2017

Joseph B Hiatt

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12 August 2017

William H Roden

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12 August 2017

Sonya A Gunter

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12 August 2017

Susan L Christian

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12 August 2017

Sarah Collins

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12 August 2017

Carissa Adams

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12 August 2017

Jean-Baptiste Rivière

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12 August 2017

Judith St-Onge

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12 August 2017

Jeffrey G Ojemann

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12 August 2017

Robert F Hevner

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12 August 2017

language of work or name

English

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publication date

25 February 2015

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12 August 2017

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12 August 2017

138

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12 August 2017

Pt 6

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12 August 2017

1613-1628

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Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies.

12 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Mystery case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Spatiotemporal characterization of mTOR kinase activity following kainic acid induced status epilepticus and analysis of rat brain response to chronic rapamycin treatment

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

PI3K-Akt signaling activates mTOR-mediated epileptogenesis in organotypic hippocampal culture model of post-traumatic epilepsy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

A genomic view of mosaicism and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Diffusion tensor imaging and fiber tractography in brain malformations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Surgical treatment of epilepsy associated with cortical dysplasia: 2012 update

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Somatic activation of AKT3 causes hemispheric developmental brain malformations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

PI3K and mTOR signaling pathways in cancer: new data on targeted therapies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Targeting PI3K signalling in cancer: opportunities, challenges and limitations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

AKT/PKB signaling: navigating downstream

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

3 June 2018

The two TORCs and Akt.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

RAS/ERK signaling promotes site-specific ribosomal protein S6 phosphorylation via RSK and stimulates cap-dependent translation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

The oncogenic properties of mutant p110alpha and p110beta phosphatidylinositol 3-kinases in human mammary epithelial cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Activation of AKT kinases in cancer: implications for therapeutic targeting

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

High frequency of mutations of the PIK3CA gene in human cancers

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

PTEN: one gene, many syndromes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Mechanisms and consequences of somatic mosaicism in humans

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Hemimegalencephaly: part 1. Genetic, clinical, and imaging aspects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Mutations of the human PTEN gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Bilateral neuropathologic changes in a child with hemimegalencephaly.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Mechanism of activation of protein kinase B by insulin and IGF-1

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Identification and characterization of the tuberous sclerosis gene on chromosome 16

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Unilateral megalencephaly: correlation of MR imaging and pathologic characteristics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly.

3 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Mammalian target of rapamycin inhibitors for intractable epilepsy and subependymal giant cell astrocytomas in tuberous sclerosis complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Multi-focal occurrence of cortical dysplasia in epilepsy patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Activation of mammalian target of rapamycin in cytomegalic neurons of human cortical dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

PTEN hamartoma tumour syndrome: variability of an entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Everolimus in tuberous sclerosis patients with intractable epilepsy: a treatment option?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV045

Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4614119

Causes of epilepsies: Insights from discordant monozygous twins

26 November 2018

1 reference

12 December 2020

Pathology of tuberous sclerosis. Neuropathologic aspects

1 reference

12 December 2020

Cellular neuropathology of tuberous sclerosis

1 reference

12 December 2020

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

1 reference

12 December 2020

Epidemiology of hemimegalencephaly: a case series and review

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWV045

1 reference

12 August 2017

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12 August 2017

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