Mark Mackay

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique RM Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T Myers, Christina Fenger, Zaid Afawi, Edith P Almanza Fuerte, Danielle M Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F Bennett, Samuel F Berkovic, Bertrand Isidor, Arjan Bouman, Eva Brilstra, et al.

Journal article  |  2020  |  Genetics in Medicine

PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), a..

Validation of the focal cerebral arteriopathy severity score (FCASS) in a Swiss cohort: Correlation with infarct volume and outcome

Nedelina Slavova, Heather J Fullerton, Nancy K Hills, Philipe S Breiding, Mark T Mackay, Maja Steinlin

Journal article  |  2020  |  European Journal of Paediatric Neurology

BACKGROUND: Focal cerebral arteriopathy (FCA), a major cause of childhood arterial ischemic stroke (AIS), can progress and lead to..

Spectrum of cerebral arteriopathies in children with arterial ischemic stroke

Mubeen F Rafay, Kevin A Shapiro, Ann-Marie Surmava, Gabrielle A deVber, Adam Kirton, Heather J Fullerton, Catherine Amlie-Lefond, Bernhard Weschke, Nomazulu Dlamini, Jessica L Carpenter, Mark T Mackay, Michael Rivkin, Alexandra Linds, Timothy J Bernard

Journal article  |  2020  |  Neurology

OBJECTIVE: To determine that children with arterial ischemic stroke (AIS) due to an identifiable arteriopathy are distinct from th..

Clinical application of the PedsQL Epilepsy Module (PedsQL-EM) in an ambulatory pediatric epilepsy setting

Danielle Hulse, A Simon Harvey, Jeremy L Freeman, Mark T Mackay, Gabriel Dabscheck, Sarah M Barton

Journal article  |  2020  |  Epilepsy & Behavior

INTRODUCTION: Children with epilepsy report lower health-related quality of life (QOL) compared with healthy children and those wi..

Pediatric ASPECTS predicts outcomes following acute symptomatic neonatal arterial stroke

Mark T Mackay, Nedelina Slavova, Manuela Pastore-Wapp, Sebastian Grunt, Belinda Stojanovski, Susan Donath, Maja Steinlin

Journal article  |  2020  |  Neurology

OBJECTIVE: To test the hypothesis that the Alberta Stroke Program Early Computed Tomography Score (ASPECTS) is useful in determini..

Cognitive resilience following paediatric stroke: Biological and environmental predictors

Vicki Anderson, Simone Darling, Mark Mackay, Paul Monagle, Mardee Greenham, Anna Cooper, Rod W Hunt, Stephen Hearps, Anne L Gordon

Journal article  |  2020  |  European Journal of Paediatric Neurology

Little is known about resilience after paediatric stroke (PS), or the factors that contribute to better outcomes. Rather, research..

Focal cerebral arteriopathy and childhood stroke

Nicola D Fearn, Mark T Mackay

Journal article  |  2020  |  Current Opinion in Neurology

PURPOSE OF REVIEW: Focal cerebral arteriopathy (FCA) is one of the most common causes of arterial ischaemic stroke in a previously..

Risk of Intracranial Hemorrhage Following Intravenous tPA (Tissue-Type Plasminogen Activator) for Acute Stroke Is Low in Children.

Catherine Amlie-Lefond, Dennis WW Shaw, Andrew Cooper, Mark S Wainwright, Adam Kirton, Ryan J Felling, Michael G Abraham, Mark T Mackay, Michael M Dowling, Marcela Torres, Michael J Rivkin, Eric F Grabowski, Sarah Lee, Jonathan E Kurz, Hugh J McMillan, Dwight Barry, Jacqueline Lee-Eng, Rebecca N Ichord

Journal article  |  2020  |  Stroke

Background and Purpose- Data regarding the safety and efficacy of intravenous tPA (tissue-type plasminogen activator) in childhood..

Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke Study.

Barbara Goeggel Simonetti, Mubeen F Rafay, Melissa Chung, Warren D Lo, Lauren A Beslow, Lori L Billinghurst, Christine K Fox, Alberto Pagnamenta, Maja Steinlin, Mark T Mackay, undefined IPSS Study Group

Journal article  |  2020  |  Neurology

OBJECTIVE: To compare risk factors, clinical presentation, and outcomes after posterior circulation arterial ischemic stroke (PCAI..

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..