Professor Richard Leventer

  • Neurology - Richard Leventer

    Consultant Neurologist

    Head of Neuroscience Research Group, Murdoch Children's Research Institute
    Professor, University of Melbourne Department of Paediatrics.

    Biographical Sketch

    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.

    Clinical Interests

    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.

    Research Interests

    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. 

    Selected publications

    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. 2019;6:1338-1344.

    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


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     Contact information

    Mailing address:   Department of Neurology
      The Royal Children's Hospital
      Flemington Road
      Parkville, Victoria 3052,
     Phone:   +61 3 9345 5661 
     Fax:   +61 3 9345 5977