Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Ruby E. Dawson; Alvaro F. Nieto Guil; Louise J. Robertson; Sandra G. Piltz; James N. Hughes; Paul Q. Thomas

doi:10.1016/j.nbd.2019.104640

Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

Ruby E. Dawson
, Alvaro F. Nieto Guil
, Louise J. Robertson
, Sandra G. Piltz
, James N. Hughes
, Paul Q. Thomas

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Neurobiology of Disease
Volume	134
DOIs	https://doi.org/10.1016/j.nbd.2019.104640
Publication status	Published (in print/issue) - 19 Oct 2019

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Neurodevelopment
Epilepsy
Focal cortical dysplasia
Molecular genetics
Functional testing
Developmental genetics
CRISPR/CAS9
Disease model
Mouse model
mTOR

Access to Document

10.1016/j.nbd.2019.104640

Cite this

@article{dfdb268d1cd24d2aa6d6281ddb445818,

title = "Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy",

keywords = "Neurodevelopment, Epilepsy, Focal cortical dysplasia, Molecular genetics, Functional testing, Developmental genetics, CRISPR/CAS9, Disease model, Mouse model, mTOR",

author = "Dawson, \{Ruby E.\} and Guil, \{Alvaro F. Nieto\} and Robertson, \{Louise J.\} and Piltz, \{Sandra G.\} and Hughes, \{James N.\} and Thomas, \{Paul Q.\}",

year = "2019",

month = oct,

day = "19",

doi = "10.1016/j.nbd.2019.104640",

language = "English",

volume = "134",

journal = "Neurobiology of Disease",

issn = "0969-9961",

publisher = "Academic Press",

}

TY - JOUR

T1 - Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy

AU - Dawson, Ruby E.

AU - Guil, Alvaro F. Nieto

AU - Robertson, Louise J.

AU - Piltz, Sandra G.

AU - Hughes, James N.

AU - Thomas, Paul Q.

PY - 2019/10/19

Y1 - 2019/10/19

KW - Neurodevelopment

KW - Epilepsy

KW - Focal cortical dysplasia

KW - Molecular genetics

KW - Functional testing

KW - Developmental genetics

KW - CRISPR/CAS9

KW - Disease model

KW - Mouse model

KW - mTOR

U2 - 10.1016/j.nbd.2019.104640

DO - 10.1016/j.nbd.2019.104640

M3 - Article

C2 - 31639411

SN - 0969-9961

VL - 134

JO - Neurobiology of Disease

JF - Neurobiology of Disease

ER -