Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Maria O. Levitin; Lettie E. Rawlins; Gabriela Sanchez-Andrade; Osama A. Arshad; Stephan C. Collins; Stephen J. Sawiak; Phillip H. Iffland; Malin H.L. Andersson; Caleb Bupp; Emma L. Cambridge; Eve L. Coomber; Ian Ellis; Johanna C. Herkert; Holly Ironfield; Logan Jory; Perrine F. Kretz; Sarina G. Kant; Alexandra Neaverson; Esther Nibbeling; Christine Rowley; Emily Relton; Mark Sanderson; Ethan M. Scott; Helen Stewart; Andrew Y. Shuen; John Schreiber; Liz Tuck; James Tonks; Thorkild Terkelsen; Conny van Ravenswaaij-Arts; Pradeep Vasudevan; Olivia Wenger; Michael Wright; Andrew Day; Adam Hunter; Minal Patel; Christopher J. Lelliott; Peter B. Crino; Binnaz Yalcin; Andrew H. Crosby; Emma L. Baple; Darren W. Logan; Matthew E. Hurles; Sebastian S. Gerety

doi:10.1093/brain/awad231

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Maria O. Levitin, Lettie E. Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine RowleyEmily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew H. Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety

Clinical Genetics

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

2 Citations (Scopus)

14 Downloads (Pure)

Abstract

Models

Original language	English
Pages (from-to)	4766-4783
Number of pages	18
Journal	Brain : a journal of neurology
Volume	146
Issue number	11
DOIs	https://doi.org/10.1093/brain/awad231
Publication status	Published - 1 Nov 2023

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Publisher Copyright:
© The Author(s) 2023.

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Levitin, M. O., Rawlins, L. E., Sanchez-Andrade, G., Arshad, O. A., Collins, S. C., Sawiak, S. J., Iffland, P. H., Andersson, M. H. L., Bupp, C., Cambridge, E. L., Coomber, E. L., Ellis, I., Herkert, J. C., Ironfield, H., Jory, L., Kretz, P. F., Kant, S. G., Neaverson, A., Nibbeling, E., ... Gerety, S. S. (2023). Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain : a journal of neurology, 146(11), 4766-4783. https://doi.org/10.1093/brain/awad231

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title = "Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes",

abstract = "Models",

author = "Levitin, {Maria O.} and Rawlins, {Lettie E.} and Gabriela Sanchez-Andrade and Arshad, {Osama A.} and Collins, {Stephan C.} and Sawiak, {Stephen J.} and Iffland, {Phillip H.} and Andersson, {Malin H.L.} and Caleb Bupp and Cambridge, {Emma L.} and Coomber, {Eve L.} and Ian Ellis and Herkert, {Johanna C.} and Holly Ironfield and Logan Jory and Kretz, {Perrine F.} and Kant, {Sarina G.} and Alexandra Neaverson and Esther Nibbeling and Christine Rowley and Emily Relton and Mark Sanderson and Scott, {Ethan M.} and Helen Stewart and Shuen, {Andrew Y.} and John Schreiber and Liz Tuck and James Tonks and Thorkild Terkelsen and {van Ravenswaaij-Arts}, Conny and Pradeep Vasudevan and Olivia Wenger and Michael Wright and Andrew Day and Adam Hunter and Minal Patel and Lelliott, {Christopher J.} and Crino, {Peter B.} and Binnaz Yalcin and Crosby, {Andrew H.} and Baple, {Emma L.} and Logan, {Darren W.} and Hurles, {Matthew E.} and Gerety, {Sebastian S.}",

note = "Publisher Copyright: {\textcopyright} The Author(s) 2023.",

year = "2023",

month = nov,

day = "1",

doi = "10.1093/brain/awad231",

language = "English",

volume = "146",

pages = "4766--4783",

journal = "Brain : a journal of neurology",

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Levitin, MO, Rawlins, LE, Sanchez-Andrade, G, Arshad, OA, Collins, SC, Sawiak, SJ, Iffland, PH, Andersson, MHL, Bupp, C, Cambridge, EL, Coomber, EL, Ellis, I, Herkert, JC, Ironfield, H, Jory, L, Kretz, PF, Kant, SG, Neaverson, A, Nibbeling, E, Rowley, C, Relton, E, Sanderson, M, Scott, EM, Stewart, H, Shuen, AY, Schreiber, J, Tuck, L, Tonks, J, Terkelsen, T, van Ravenswaaij-Arts, C, Vasudevan, P, Wenger, O, Wright, M, Day, A, Hunter, A, Patel, M, Lelliott, CJ, Crino, PB, Yalcin, B, Crosby, AH, Baple, EL, Logan, DW, Hurles, ME & Gerety, SS 2023, 'Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes', Brain : a journal of neurology, vol. 146, no. 11, pp. 4766-4783. https://doi.org/10.1093/brain/awad231

TY - JOUR

T1 - Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

AU - Levitin, Maria O.

AU - Rawlins, Lettie E.

AU - Sanchez-Andrade, Gabriela

AU - Arshad, Osama A.

AU - Collins, Stephan C.

AU - Sawiak, Stephen J.

AU - Iffland, Phillip H.

AU - Andersson, Malin H.L.

AU - Bupp, Caleb

AU - Cambridge, Emma L.

AU - Coomber, Eve L.

AU - Ellis, Ian

AU - Herkert, Johanna C.

AU - Ironfield, Holly

AU - Jory, Logan

AU - Kretz, Perrine F.

AU - Kant, Sarina G.

AU - Neaverson, Alexandra

AU - Nibbeling, Esther

AU - Rowley, Christine

AU - Relton, Emily

AU - Sanderson, Mark

AU - Scott, Ethan M.

AU - Stewart, Helen

AU - Shuen, Andrew Y.

AU - Schreiber, John

AU - Tuck, Liz

AU - Tonks, James

AU - Terkelsen, Thorkild

AU - van Ravenswaaij-Arts, Conny

AU - Vasudevan, Pradeep

AU - Wenger, Olivia

AU - Wright, Michael

AU - Day, Andrew

AU - Hunter, Adam

AU - Patel, Minal

AU - Lelliott, Christopher J.

AU - Crino, Peter B.

AU - Yalcin, Binnaz

AU - Crosby, Andrew H.

AU - Baple, Emma L.

AU - Logan, Darren W.

AU - Hurles, Matthew E.

AU - Gerety, Sebastian S.

PY - 2023/11/1

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SN - 0006-8950

VL - 146

SP - 4766

EP - 4783

JO - Brain : a journal of neurology

JF - Brain : a journal of neurology

IS - 11

ER -

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Abstract

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