Publications by authors named "Simone Mandelstam"

47Publications

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

J Paediatr Child Health 2020 Aug 24;56(8):1210-1218. Epub 2020 Apr 24.

Genetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.14890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497200PMC
August 2020

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.

Neuron 2018 01;97(1):59-66.e5

School of Biological Sciences and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; School of Medicine and Robinson Research Institute, The University of Adelaide, Adelaide, SA 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08966273173112
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http://dx.doi.org/10.1016/j.neuron.2017.12.005DOI Listing
January 2018

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

Am J Med Genet A 2018 01 21;176(1):230-234. Epub 2017 Nov 21.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38549DOI Listing
January 2018

Not all epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Neurology 2017 Sep 9;89(10):1035-1042. Epub 2017 Aug 9.

From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589790PMC
September 2017

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.

Epilepsia 2017 06 25;58(6):1085-1094. Epub 2017 Apr 25.

Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13746DOI Listing
June 2017

Acute spinal cord syndrome secondary to venous congestion.

Neurology 2016 09;87(12):1302-3

From The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003132DOI Listing
September 2016

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography.

Radiology 2016 Dec 29;281(3):896-906. Epub 2016 Jun 29.

From the Imaging Division, Florey Institute of Neuroscience and Mental Health, Melbourne Brain Centre, 245 Burgundy St, Melbourne, Australia 3084 (S.F., J.D.T., F.C., S.M., I.E.S., G.D.J., A.C.); Department of Medical Imaging and Radiation Sciences, Monash University, Melbourne, Australia (S.F., M.E.S.); Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia (J.D.T., F.C., G.D.J., A.C.); Department of Biomedical Engineering (J.D.T.) and Centre for the Developing Brain (J.D.T.), King's College London, London, England; Departments of Radiology (S.M.) and Paediatrics (S.M., I.E.S.), Royal Children's Hospital, University of Melbourne, Melbourne, Australia; and Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia (R.B., S.F.B., I.E.S.).

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http://dx.doi.org/10.1148/radiol.2016150852DOI Listing
December 2016

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Neurol Genet 2015 Aug 23;1(2):e17. Epub 2015 Jul 23.

Division of Genetic Medicine (G.L.C., J. Saykally, M.Z., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Epilepsy Research Centre (D.E.C., B.M.R., J.M.M., A.L.S., S.A.M., S.F.B., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Neurology Department (D.E.C.), Northern Health, Melbourne, Australia; Epilepsy Research Program (L.D.), School of Pharmacy and Medical Sciences, and Sansom Institute for Health Research (L.D.), University of South Australia, Adelaide, Australia; Department of Neurology (K.B.H., R.J.L., A.S.H., I.E.S.), Royal Children's Hospital, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health (K.B.H., S.M., R.J.L., A.S.H., S.A.M., I.E.S.), Melbourne, Australia; Murdoch Childrens Research Institute (K.B.H., R.J.L., A.S.H.), Melbourne, Australia; Department of Paediatrics (S.M., R.J.L., A.S.H.) and Department of Radiology (S.M.), The University of Melbourne, Melbourne, Australia; and Epilepsy Division (J. Sullivan), Department of Neurology and Pediatrics, University of California, San Francisco.

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http://dx.doi.org/10.1212/NXG.0000000000000016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807908PMC
August 2015

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Am J Med Genet A 2016 Apr 28;170A(4):1059-63. Epub 2015 Dec 28.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37527DOI Listing
April 2016

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Neurology 2015 Sep 19;85(11):958-66. Epub 2015 Aug 19.

From the Departments of Neurology (K.B.H., M.T.M., V.R.-C., J.L.F., A.S.H., I.E.S.) and Radiology (S.M.), The Royal Children's Hospital, Melbourne; Department of Paediatrics (K.B.H., M.T.M., S.M., A.S.H., I.E.S.), The University of Melbourne; Murdoch Childrens Research Institute (K.B.H., M.T.M., J.L.F., A.S.H.), Melbourne; Epilepsy Research Centre (J.M.M., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Paediatrics, University of Washington, Seattle; Epilepsy Genetics Program (D.T., H.E.O., A.P.), Department of Neurology, Harvard Medical School, Boston Children's Hospital, MA; TY Nelson Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Sydney; Department of Neurology (D.C.), Women's and Children's Hospital, Adelaide; Neurosciences Children's Health Queensland (S.C.), Lady Cilento Children's Hospital, Brisbane; and Florey Institute of Neuroscience and Mental Health (S.M., A.S.H., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567464PMC
September 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.

Neurology 2015 May 17;84(20):2021-8. Epub 2015 Apr 17.

From the Departments of Neurology (A.S.H., R.J.L., G.D.J.), Medical Imaging (S.A.M., M.J.K.), Neurosurgery (W.J.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Parkville; Departments of Neurology (G.D.J.), Radiology (Y.P., G.J.F.), Neurosurgery (G.C.A.F.), and Anatomical Pathology (R.M.K.), Austin Health, Heidelberg; Departments of Paediatrics (A.S.H., S.A.M., R.J.L.), Medicine (G.D.J.), Surgery (G.C.A.F.), Pathology (D.M., R.M.K.), and Radiology (S.A.M., Y.P., G.J.F.), The University of Melbourne; Florey Institute of Neuroscience and Mental Health (A.S.H., S.A.M., M.S., G.D.J.), Heidelberg; Neurosciences (A.S.H., W.J.M., R.J.L.) and Developmental Imaging (S.B., M.J.K.) Groups, Murdoch Children's Research Institute, Parkville, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442099PMC
May 2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Neurology 2015 Mar 11;84(9):951-8. Epub 2015 Feb 11.

From the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000130
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351660PMC
March 2015

GRIN2A: an aptly named gene for speech dysfunction.

Neurology 2015 Feb 16;84(6):586-93. Epub 2015 Jan 16.

From the Department of Paediatrics (S.J.T., S.A.M., A.T.M., I.E.S.), The University of Melbourne, The Royal Children's Hospital, Parkville; Language and Literacy Group (A.K.M., A.T.M.), Population Health Theme, Murdoch Childrens Research Institute, Parkville; Speech Pathology Department (A.V.), The Royal Children's Hospital, Parkville; Department of Radiology (S.A.M.), The University of Melbourne, Parkville; Epilepsy Research Centre (I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne; and Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4335991PMC
February 2015

Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.

Epilepsy Res 2015 Jan 30;109:40-7. Epub 2014 Oct 30.

Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2014.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272571PMC
January 2015

Sonography of the pediatric gastrointestinal system.

Ultrasound Q 2014 Jun;30(2):101-17

Department of Medical Imaging, The Royal Children's Hospital, Victoria, Australia.

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http://dx.doi.org/10.1097/RUQ.0b013e3182a38dccDOI Listing
June 2014

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Ann Neurol 2014 May 14;75(5):782-7. Epub 2014 Apr 14.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ana.24126DOI Listing
May 2014

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

Epilepsia 2014 Mar 6;55(3):e22-6. Epub 2014 Feb 6.

Department of Neurology, Royal Children's Hospital, Melbourne, Victoria, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.12533DOI Listing
March 2014

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

Ann Neurol 2014 Mar 18;75(3):382-94. Epub 2014 Mar 18.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24080DOI Listing
March 2014

Spectrum of imaging appearances in Australian children with central nervous system hemophagocytic lymphohistiocytosis.

J Clin Neurosci 2014 Feb 9;21(2):305-10. Epub 2013 Oct 9.

Department of Medical Imaging, Royal Children's Hospital Melbourne, Flemington Road, Parkville, VIC 3052, Australia; Florey Neuroscience Institutes, Melbourne Brain Centre, Melbourne, VIC, Australia; Department of Radiology, University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1016/j.jocn.2013.03.032DOI Listing
February 2014

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Neurology 2013 Nov 9;81(19):1697-703. Epub 2013 Oct 9.

From the Neurogenetics Group (S.W., R.H., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., R.H., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Department of Paediatrics (V.I.), University Hospital Centre Zagreb, Croatia; Division of Pediatric Neurology and Metabolism (R.V.C.), Department of Pediatrics, University Hospital Ghent, Belgium; Danish Epilepsy Centre (H.H., R.S.M.), Dianalund; Institute for Regional Health Research (H.H.), University of Southern Denmark, Odense; Department of Child Neurology (S.G.), Juliane Marie Center, Rigshospital, Copenhagen, Denmark; Pediatric Neurology (A.-S.S., B.C.), Department of Neurology (A.-S.S., B.C., P.D.J.), Antwerp University Hospital, Antwerp University, Antwerp, Belgium; Epilepsy Research Centre (S.B.H., S.M., I.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Great Ormond Street Hospital (C.E.), London; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Child Neurology and Neurorehabilitation Unit (G.C., M.A.), Department of Pediatrics, Central Hospital of Bolzano; Neurology Unit and laboratories (T.P., R.G., C.M.), A. Meyer Children's Hospital, Florence; Child Neuropsychiatry Unit (L.G.), Spedali Civili, Brescia, Italy; Pädiatrie I (K.R., E.H.), Division of Pediatric Neurology, University Hospital Innsbruck, Austria; University Hospital Essen (B.A.), University Duisburg-Essen; Department of Paediatric Neurology and Developmental Medicine (A.B.), University Children's Hospital Tübingen, Eberhard Karls University of Tübingen; Center for Child Neurology (I.B.), Sana Krankenhaus Gerresheim, Düsseldorf; Department of Neuropediatrics (S.S.), Hospital for Children and Adolescents, University of Leipzig, Germany; Department of Neurology (B.S., A.P.), Boston Children's Hospital, Harvard School of Medicine; Department of Biology (B.S.), Brandeis U

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http://dx.doi.org/10.1212/01.wnl.0000435296.72400.a1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812107PMC
November 2013

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.

Am J Med Genet A 2013 Oct 15;161A(10):2604-8. Epub 2013 Aug 15.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia; University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36108DOI Listing
October 2013

Gliomatosis cerebri in a patient with Ollier disease.

J Clin Neurosci 2011 Nov 24;18(11):1564-6. Epub 2011 Aug 24.

Department of Neurosurgery, Royal Melbourne Hospital, Grattan Street, Parkville, Victoria 3050, Australia.

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http://dx.doi.org/10.1016/j.jocn.2011.03.025DOI Listing
November 2011

Pediatric ocular sonography.

Semin Ultrasound CT MR 2011 Feb;32(1):14-27

Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1053/j.sult.2010.09.005DOI Listing
February 2011

Medial temporal lobe dysgenesis in hypochondroplasia.

Am J Med Genet A 2005 Nov;138(4):389-91

Genetic Health Services, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.30974
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http://dx.doi.org/10.1002/ajmg.a.30974DOI Listing
November 2005

Pulmonary capillary haemangiomatosis in a premature infant.

Pediatr Radiol 2005 Jun 16;35(6):635-40. Epub 2005 Feb 16.

Royal Children's Hospital, University of Melbourne, Flemington Road, Parkville, VIC 3052, Australia.

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http://link.springer.com/10.1007/s00247-004-1374-6
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http://dx.doi.org/10.1007/s00247-004-1374-6DOI Listing
June 2005

Acute tinnitus and hearing loss as the initial symptom of multiple sclerosis in a child.

Int J Pediatr Otorhinolaryngol 2005 Jan;69(1):123-6

Department of Neurology, Royal Children's Hospital, Parkville, Vic., Australia.

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http://dx.doi.org/10.1016/j.ijporl.2004.08.006DOI Listing
January 2005

Aortic duplication artefact in a 14-year-old girl.

Pediatr Radiol 2004 Jun 31;34(6):508. Epub 2004 Jan 31.

Department of Medical Imaging, Royal Children's Hospital, Flemington Road, Parkville Melbourne, Victoria 3052, Australia.

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http://dx.doi.org/10.1007/s00247-004-1143-6DOI Listing
June 2004

MRI of optic disc edema in childhood idiopathic intracranial hypertension.

Pediatr Radiol 2004 Apr 14;34(4):362. Epub 2004 Jan 14.

Medical Imaging Department, Royal Children's Hospital, Flemington Road, Parkville, 3052 Victoria, Australia.

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http://dx.doi.org/10.1007/s00247-003-1121-4DOI Listing
April 2004

MRI and preoperative embolization of a nasal cavity haemangioma in a child.

Australas Radiol 2003 Dec;47(4):386-8

Red Cross Children's Hospital, University of Cape Town, Cape Town, South Africa.

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http://dx.doi.org/10.1046/j.1440-1673.2003.01207.xDOI Listing
December 2003

Anterior temporal changes on MR images of children with hippocampal sclerosis: an effect of seizures on the immature brain?

AJNR Am J Neuroradiol 2003 Sep;24(8):1670-7

Department of Radiology, Royal Children's Hospital, Melbourne, Australia.

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September 2003

Angiographic features of 26 children with Takayasu's arteritis.

Pediatr Radiol 2003 Apr 5;33(4):230-5. Epub 2003 Feb 5.

Department of Paediatric Nephrology, Red Cross War Memorial Children's Hospital, School of Child and Adolescent Health, University of Cape Town, Klipfontein Road, Rondebosch 7700, Cape Town, South Africa.

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http://dx.doi.org/10.1007/s00247-002-0817-1DOI Listing
April 2003