(Q35753306)

10 August 2017

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia (English)

1 reference

10 August 2017

1 reference

1 reference

13

Jay Shendure

1 reference

10 August 2017

11

Harry V Vinters

1 reference

10 August 2017

15

Christopher A Walsh

1 reference

10 August 2017

14

Gary W Mathern

1 reference

10 August 2017

16

Annapurna Poduri

1 reference

10 August 2017

5

Evan A Boyle

1 reference

10 August 2017

Alissa M D'Gama

1

1 reference

10 August 2017

Ying Geng

2

1 reference

10 August 2017

Javier A Couto

3

1 reference

10 August 2017

Beth Martin

4

1 reference

10 August 2017

Christopher M LaCoursiere

6

1 reference

10 August 2017

Amer Hossain

7

1 reference

10 August 2017

Nicole E Hatem

8

1 reference

10 August 2017

Brenda J Barry

9

1 reference

10 August 2017

David J Kwiatkowski

10

1 reference

10 August 2017

A James Barkovich

12

1 reference

10 August 2017

26 February 2015

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10 August 2017

1 reference

10 August 2017

77

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10 August 2017

4

1 reference

10 August 2017

720-725

1 reference

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Somatic mutations in cerebral cortical malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Somatic mutation, genomic variation, and neurological disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Using whole-exome sequencing to identify inherited causes of autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

mTOR signaling in growth control and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Somatic activation of AKT3 causes hemispheric developmental brain malformations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

Tuberous sclerosis complex with a single brain lesion on MRI mimicking focal cortical dysplasia.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4471336

DEPDC5 does it all: shared genetics for diverse epilepsy syndromes

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25599672

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.24357

1 reference

10 August 2017

1 reference

10 August 2017

1 reference