Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy.

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Abstract

To determine the genetic basis of bottom-of-sulcus dysplasia (BOSD), which is a highly focal and epileptogenic cortical malformation in which the imaging, electrophysiologic, and pathologic abnormalities are maximal at the bottom of sulcus, tapering to a normal gyral crown.

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Journal

Journal ID (iso-abbrev): Neurology

Title: Neurology

Publisher: Ovid Technologies (Wolters Kluwer Health)

ISSN (Electronic): 1526-632X

ISSN (Print): 0028-3878

Publication date (Electronic): November 03 2020

Volume: 95

Issue: 18

Affiliations

[1 ] From the Bruce Lefroy Centre (W.S.L., S.E.M.S., K.P., G.G., P.J.L.), Murdoch Children's Research Institute (W.M., A.S.H., R.J.L.); Department of Paediatrics (W.S.L., S.E.M.S., W.M., E.M.-L., A.S.H., R.J.L., P.J.L.), The University of Melbourne; Departments of Neurosurgery (W.M.), Neurology (E.M.-L., A.S.H., R.J.L.), and Anatomical Pathology (D.M., C.D.), The Royal Children's Hospital, Parkville; and Melbourne Brain Centre (G.J.), The Florey Institute of Neuroscience and Mental Health, Heidelberg, Australia.

[2 ] From the Bruce Lefroy Centre (W.S.L., S.E.M.S., K.P., G.G., P.J.L.), Murdoch Children's Research Institute (W.M., A.S.H., R.J.L.); Department of Paediatrics (W.S.L., S.E.M.S., W.M., E.M.-L., A.S.H., R.J.L., P.J.L.), The University of Melbourne; Departments of Neurosurgery (W.M.), Neurology (E.M.-L., A.S.H., R.J.L.), and Anatomical Pathology (D.M., C.D.), The Royal Children's Hospital, Parkville; and Melbourne Brain Centre (G.J.), The Florey Institute of Neuroscience and Mental Health, Heidelberg, Australia. paul.lockhart@mcri.edu.au.

Article

Publisher Item ID: WNL.0000000000010670

DOI: 10.1212/WNL.0000000000010670

PubMed ID: 32847954

SO-VID: 5c7e83ed-1bf3-4905-ba3e-745b5b5a1efa

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