(Q50557999)

15 March 2018

title

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. (English)

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15 March 2018

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6

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Francesca Bisulli

8

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Stefano Meletti

15

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15 March 2018

Flavia Palombo

Flavia Palombo

12

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Paolo Tinuper

Paolo Tinuper

20

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Ingrid Scheffer

19

Ingrid E Scheffer

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Marta A Bayly

Marta A Bayly

9

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Andreas W Schreiber

Andreas W Schreiber

22

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Samuel Berkovic

16

Samuel F Berkovic

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15 March 2018

Leanne Dibbens

23

Leanne M Dibbens

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15 March 2018

Guido Rubboli

17

Guido Rubboli

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15 March 2018

Sara Baldassari

11

Sara Baldassari

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15 March 2018

Laura Licchetta

7

Laura Licchetta

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15 March 2018

Tommaso Pippucci

3

Tommaso Pippucci

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15 March 2018

Bree L Hodgson

2

Bree L Hodgson

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15 March 2018

author name string

Michael G Ricos

1

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15 March 2018

Akzam Saidin

4

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15 March 2018

Yeh Sze Ong

5

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15 March 2018

James Hughes

10

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Epilepsy Electroclinical Study Group

13

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15 March 2018

Margherita Santucci

14

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15 March 2018

Paul Q Thomas

18

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15 March 2018

Ingrid E Scheffer

19

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15 March 2018

Joel Geoghegan

21

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15 March 2018

publication date

27 October 2015

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15 March 2018

published in

Annals of Neurology

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15 March 2018

volume

79

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15 March 2018

issue

1

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15 March 2018

page(s)

120-131

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15 March 2018

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

cites work

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Cognitive and behavioral complications of frontal lobe epilepsy in children: a review of the literature

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

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mTOR signaling in disease

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Role of the mTOR signaling pathway in epilepsy

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Mammalian target of rapamycin (mTOR) pathways in neurological diseases

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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

21 January 2018

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Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb

21 January 2018

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Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling

21 January 2018

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Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2

21 January 2018

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Rheb binds and regulates the mTOR kinase

21 January 2018

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Novel role of the small GTPase Rheb: its implication in endocytic pathway independent of the activation of mammalian target of rapamycin

21 January 2018

1 reference

Localization of Rheb to the endomembrane is critical for its signaling function

21 January 2018

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The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1

21 January 2018

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Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

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Validation of a questionnaire for clinical seizure diagnosis

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

21 January 2018

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21 January 2018

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Susceptibility genes for complex epilepsy

21 January 2018

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Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

21 January 2018

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Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

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Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis.

21 January 2018

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Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder

21 January 2018

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Brain overgrowth in disorders of RTK-PI3K-AKT signaling: a mosaic of malformations

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

21 January 2018

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Patches of disorganization in the neocortex of children with autism

21 January 2018

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Amino acid deprivation inhibits TORC1 through a GTPase-activating protein complex for the Rag family GTPase Gtr1.

21 January 2018

1 reference

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.24547

1 reference

15 March 2018

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15 March 2018