(Q50573684)

15 March 2018

http://europepmc.org/abstract/MED/26285051

title

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. (English)

1 reference

15 March 2018

http://europepmc.org/abstract/MED/26285051

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

David J Amor

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Paul J. Lockhart

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Simone Mandelstam

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

16

Martin B Delatycki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

5

Greta Gillies

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Joe C Sim

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Thomas Scerri

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Miriam Fanjul-Fernández

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Jessica R Riseley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Kate Pope

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hanna van Roozendaal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

George McGillivray

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Duncan MacGregor

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Lakshminarayanan Kannan

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Wirginia Maixner

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

A Simon Harvey

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Peter B Crino

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Melanie Bahlo

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Richard J Leventer

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

18 August 2015

1 reference

15 March 2018

http://europepmc.org/abstract/MED/26285051

published in

Annals of Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

132-137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26285051%20AND%20SRC:MED&resulttype=core&format=json

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

1 June 2020

cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

21 January 2018

1 reference

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

21 January 2018

1 reference

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

21 January 2018

1 reference

mTOR cascade activation distinguishes tubers from focal cortical dysplasia

21 January 2018

1 reference

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.

21 January 2018

1 reference

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

Genic intolerance to functional variation and the interpretation of personal genomes

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

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

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

21 January 2018

1 reference

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

21 January 2018

1 reference

Biallelic TSC gene inactivation in tuberous sclerosis complex

21 January 2018

1 reference