Publications by authors named "Simone A Mandelstam"

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Microstructural analysis does not support altered interhemispheric wiring of the human anterior commissure in corpus callosum dysgenesis.
Timothy J Edwards, Ryan J Dean, Gail A Robinson, Jacquelyn Knight, Simone A Mandelstam

Neuroimage Clin· November 2024

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The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Emma Macdonald-Laurs, Aaron E L Warren, Peter Francis, Simone A Mandelstam, Wei Shern Lee

Brain· April 2024

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Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam

Genes (Basel)· July 2023

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WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis

Epilepsia· May 2023

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Somatic variant (p.R132C) in an adult male with Maffucci syndrome.
Natasha J Brown, Zimeng Ye, Chloe Stutterd, Sureshni I Jayasinghe, Amy Schneider, Simone A Mandelstam

Cold Spring Harb Mol Case Stud· December 2021

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One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia.
Emma Macdonald-Laurs, Wirginia J Maixner, Catherine A Bailey, Sarah M Barton, Simone A Mandelstam

Neurology· July 2021

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Resection of tuber centers only for seizure control in tuberous sclerosis complex.
Sarah E M Stephenson, Wirginia J Maixner, Sarah M Barton, Colleen D'Arcy, Simone A Mandelstam

Epilepsy Res· March 2021

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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Simone A Mandelstam

Ann Clin Transl Neurol· July 2019

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Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam

Am J Med Genet A· January 2018

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Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Daniel T Pederick, Kay L Richards, Sandra G Piltz, Raman Kumar, Stefka Mincheva-Tasheva, Simone A Mandelstam

Neuron· January 2018

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The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries

Epilepsia· June 2017

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Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K channel properties.
Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam

Ann Neurol· May 2017

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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier, Charles Galea, Simone A Mandelstam

Nat Genet· April 2017

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Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of 5 Cases.
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins

Pediatrics· April 2017

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A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
Thuong T Ha, Lynette G Sadleir, Simone A Mandelstam, Sarah J Paterson, Ingrid E Scheffer

Am J Med Genet A· April 2016

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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Joe C Sim, Thomas Scerri, Miriam Fanjul-Fernández, Jessica R Riseley, Greta Gillies, Simone A Mandelstam

Ann Neurol· January 2016

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The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.
A Simon Harvey, Simone A Mandelstam, Wirginia J Maixner, Richard J Leventer, Mira Semmelroch

Neurology· May 2015

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Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
Thomas Scerri, Jessica R Riseley, Greta Gillies, Kate Pope, Rosemary Burgess, Simone A Mandelstam

Ann Clin Transl Neurol· May 2015

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CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin, Simone A Mandelstam

Neurology· March 2015

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GRIN2A: an aptly named gene for speech dysfunction.
Samantha J Turner, Angela K Mayes, Andrea Verhoeven, Simone A Mandelstam, Angela T Morgan

Neurology· February 2015

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Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia.
Heath R Pardoe, Simone A Mandelstam, Rebecca Kucharsky Hiess, Ruben I Kuzniecky, Graeme D Jackson

Epilepsy Res· January 2015

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Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.
Richard J Leventer, Floor E Jansen, Simone A Mandelstam, Alice Ho, Ismail Mohamed

Epilepsia· March 2014

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Pediatric ocular sonography.
Cicero Torres Silva, Cain Raymond Brockley, Alison Crum, Simone Alyson Mandelstam

Semin Ultrasound CT MR· February 2011

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Pulmonary capillary haemangiomatosis in a premature infant.
Cicero J T A Silva, John Massie, Simone A Mandelstam

Pediatr Radiol· June 2005

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Aortic duplication artefact in a 14-year-old girl.
Simone Alyson Mandelstam, Cain Brockley

Pediatr Radiol· June 2004

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