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

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Samuel F Berkovic

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Leanne Dibbens

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Leanne M Dibbens

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Guido Rubboli

17

Guido Rubboli

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Sara Baldassari

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Sara Baldassari

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Laura Licchetta

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Laura Licchetta

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Tommaso Pippucci

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Tommaso Pippucci

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Bree L Hodgson

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Bree L Hodgson

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author name string

Michael G Ricos

1

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Akzam Saidin

4

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Yeh Sze Ong

5

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James Hughes

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Epilepsy Electroclinical Study Group

13

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Margherita Santucci

14

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Paul Q Thomas

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Ingrid E Scheffer

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Joel Geoghegan

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publication date

27 October 2015

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15 March 2018

published in

Annals of Neurology

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volume

79

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issue

1

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page(s)

120-131

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Mutations in DEPDC5 cause familial focal epilepsy with variable foci

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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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Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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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

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

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Rheb binds and regulates the mTOR kinase

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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

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

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

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

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

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

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

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

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

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

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

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

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Identifiers

DOI

10.1002/ANA.24547

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15 March 2018

PubMed ID

26505888

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15 March 2018