Journal article

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

Richard J Leventer, Thomas Scerri, Ashley PL Marsh, Kate Pope, Greta Gillies, Wirginia Maixner, Duncan MacGregor, A Simon Harvey, Martin B Delatycki, David J Amor, Peter Crino, Melanie Bahlo, Paul J Lockhart

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015

Abstract

OBJECTIVE: To define causative somatic mutations in resected brain tissue from an infant with intractable epilepsy secondary to hemispheric cortical dysplasia. METHODS: Whole-exome sequencing was conducted on genomic DNA derived from both resected brain tissue and peripheral blood leukocytes. Comparison of the brain vs blood sequencing results was performed using bioinformatic methods designed to detect low-frequency genetic variation between tissue pairs. RESULTS: Histopathology of the resected tissue showed dyslamination and dysmorphic neurons, but no balloon cells, consistent with focal cortical dysplasia type IIa. mTOR activation was observed by immunohistochemistry in the dysplasia. A m..

View full abstract

Grants

Awarded by ARC


Awarded by NHMRC


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This work has been supported by the Victorian Government's Operational Infrastructure Support Program and Australian Government NHMRC IRIISS. Funding was provided by the National Health and Medical Research Council of Australia, the Murdoch Childrens Research Institute, and the Campbell Edwards Trust. M.B. is supported by an ARC Future Fellowship (FT100100764), A.P.L.M. is supported by an Australian Postgraduate Award, and P.J.L. is supported by an NHMRC Career Development Fellowship (APP1032364).