Head of Neuroscience Research Group, Murdoch Children's
Professor, University of Melbourne Department of
Prof. Leventer is a paediatric neurologist and a clinician
scientist. He received his medical training at Monash University (including a
BMedSci in biological psychiatry) and trained in general paediatrics and
paediatric neurology at the Royal Children's Hospital. He then completed a
two-year fellowship in clinical paediatric neurology at Washington University
School of Medicine in St. Louis followed by two years as a Neurogenetics Fellow
in the Department of Human Genetics at the University of Chicago, working under
Professors William Dobyns and David Ledbetter on the Brain Malformation
Research Project. He returned to the RCH as a Consultant Neurologist in July
2001. In October 2007 he received his PhD on the topic of human cortical
malformations focussing on polymicrogyria. Prof. Leventer is a past president
of the Australia and New Zealand Child Neurology Society.
Prof. Leventer sees patients with all types of neurological
disorders. He has particular interests in genetic diseases of the central
nervous system including brain malformations and white matter disorders. He is
neurologist to the weekly RCH/VCGS neurogenetics clinic, and also has expertise
in providing advice to both clinicians and parents for brain disorders
diagnosed during pregnancy.
Prof. Leventer's main research interests are disorders of
early brain development and genetic disorders of the central nervous system. He
is Director of the RCH Brain Malformation Research Program and is clinical lead
of the Massimo’s Mission Leukodystrophy Program. He is National Lead of the
Australian Genomics Brain Malformations and Leukodystrophy flagships and leads
the MCRI Neurodevelopment Flagship.
Di Donato N, Oegema R, Mancini G, Aronica E, Barakat T,
Bahi-Buisson N, Conti V, Parrini E, Guerrini R, Dobyns W, Mirzaa G, Fry A,
Gomez Andres D, Hehr U, Jansen A, Leventer R, Pilz P, Said E, Soler D, Stouffs
K, Valor LM, Wilke M, Zaki M, and Geis T. Malformations of cortical
development, international consensus recommendations on diagnostic workup.
Nature Reviews Neurology (In Press)
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray
A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS,
Lockhart PJ and Leventer RJ. Second-hit DEPDC5 mutation limited to dysmorphic
neurons in cortical dysplasia type IIA. Ann Clin Transl Neurol.
Marsh APL, Heron D, Edwards TJ, Quartier A, Galea C, Nava C,
Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C,
Gillies G, Gobius I, Guegan J, Heide S, Keren B, LesneF, Lukic V, Mcgillivray
G, Mandelstam SM, McIlroy A, Méneret A, Mignot C, Morcom L, Odent S, Paolino A,
Pope K, Riant F, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard
O, Welniarz O, Wood A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor
DJ, Roze E, Piton A, Bahlo M, de Villemeur TB, Sherr E, Leventer RJ, Richards
LJ, Lockhart PJ, Depienne C. Mutations in DCC cause Agenesis of the corpus
callosum. Nature Genetics 2017;49:511-514.
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G,
Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D,
Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M,
Lockhart PJ, Leventer RJ. Familial cortical dysplasia caused by mutation in the
mTOR regulator NPRL3. Annals of Neurology 2016;79:132-7.
Leventer RJ, Scerri T, Marsh APL, Pope K, Gillies G, Maixner
W, MacGregor D, Harvey AS, Delatycki MB, Amor DJ, Crino P, Bahlo M, Lockhart
PJ. Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in
MTOR. Neurology, 2015;84:2029-32.
Jamuar SS, Lam AN, Kirchner M, D’Gama A, Wang J, Barry BJ,
Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Topcu M, Amrom D,
Andermann E, Guerrini R, Mulley J, Scheffer I, Leventer RJ, Berkovic SF, Shen
Y, B, Brain Malformation Study Group, Barkovich AJ, Sahin M, Bamshad M,
Nickerson D, Shendure J, Poduri A, Yu T, Walsh CA. Somatic mutations in
cerebral cortical malformations. NEJM, 2014;371:733-43.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C,
Grimmond SM, Miller D5, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, de
Coo IMF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PWJ,
Bevova M, Abbink TEM, van der Knaap MS, Wolf NI. Rare damaging DARS variants
cause Hypomyelination with Brain stem and Spinal cord involvement and Leg
spasticity (HBSL), a novel disorder with striking resemblance to the
DARS2-associated disease LBSL. AJHG, 2013;92,:774–780
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau
F, Malone J, Mitchell LA, Mandelstam, S, Scheffer IE, Berkovic SF, Andermann E,
Andermann F, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of
polymicrogyria: a study of 328 patients. Brain 2010; 133:1415-27.
Anderson V, Spencer-Smith M, Leventer R, Coleman L, Anderson
P, Williams J, Greenham M, Jacobs R. Childhood brain insult: can age at insult
help us predict outcome? Brain. 2009;132:45-56.
Leventer RJ, Phelan EM, Coleman LT, Kean MJ,
Jackson GD, and Harvey AS. Clinical and imaging features of cortical
malformations in childhood. Neurology 1999;53:715-722
Link to all publications: http://www.ncbi.nlm.nih.gov/pubmed/?term=Leventer+R
|| Department of Neurology
The Royal Children's Hospital
Parkville, Victoria 3052,
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