(Q50657268)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24585383%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations (English)

1 reference

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9 March 2020

1 reference

1 reference

1

1 reference

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9 March 2020

Sarah E Heron

2

1 reference

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9 March 2020

Douglas E Crompton

5

1 reference

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9 March 2020

Francesca Bisulli

9

1 reference

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9 March 2020

Jozef Gécz

11

1 reference

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9 March 2020

Samuel Berkovic

15

1 reference

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9 March 2020

Brigid M Regan

3

1 reference

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9 March 2020

Simone Mandelstam

4

1 reference

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9 March 2020

Lata Vadlamudi

10

1 reference

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9 March 2020

Paolo Tinuper

13

1 reference

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9 March 2020

Leanne Dibbens

16

1 reference

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9 March 2020

7

Laura Licchetta

1 reference

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9 March 2020

6

Bree L Hodgson

1 reference

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9 March 2020

author name string

Alan Connelly

12

1 reference

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9 March 2020

Michael G Ricos

14

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9 March 2020

Federica Provini

8

1 reference

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9 March 2020

publication date

14 April 2014

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9 March 2020

1 reference

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9 March 2020

volume

75

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9 March 2020

issue

5

1 reference

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9 March 2020

page(s)

782-787

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24585383%20AND%20SRC:MED&resulttype=core&format=json

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

9 March 2020

cites work

1 reference

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.

21 January 2018

1 reference

Validation of a questionnaire for clinical seizure diagnosis

21 January 2018

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

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

A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

1 reference

Small focal cortical dysplasia lesions are located at the bottom of a deep sulcus.

21 January 2018

1 reference

Bottom-of-sulcus dysplasia: imaging features

21 January 2018

1 reference

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

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

mTOR signaling in growth control and disease

21 January 2018

1 reference

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

21 January 2018

1 reference

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions

21 January 2018

1 reference

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2

21 January 2018

1 reference