O
O. Carter Snead
Researcher at University of Toronto
Publications - 261
Citations - 12075
O. Carter Snead is an academic researcher from University of Toronto. The author has contributed to research in topics: Epilepsy & Epilepsy surgery. The author has an hindex of 57, co-authored 248 publications receiving 10719 citations. Previous affiliations of O. Carter Snead include Mental Health Research Institute & Hospital for Sick Children.
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Journal ArticleDOI
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Berge A. Minassian,R. Lee Jeffrey,Jo Anne Herbrick,Jack J. Huizenga,Sylvia Soder,Andrew J. Mungall,Ian Dunham,R. J. Gardner,Chung Yan G. Fong,Stirling Carpenter,Laura Bannach Jardim,P. Satishchandra,Eva Andermann,O. Carter Snead,Iscia Lopes-Cendes,Lap-Chee Tsui,Antonio V. Delgado-Escueta,Guy A. Rouleau,Stephen W. Scherer +18 more
TL;DR: A novel gene, EPM2A, is identified at chromosome 6q24 that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP) that is predicted to cause deleterious effects in the putative protein product, named laforin, resulting in Lafora's disease.
Journal ArticleDOI
GABA, γ-hydroxybutyric acid, and neurological disease
TL;DR: The roles of GABAergic neurotransmission in epilepsy, anxiety disorders, schizophrenia, stiff‐person syndrome, and premenstrual dysphoric disorder are covered, as well as an inborn error of GABA metabolism, succinic semialdehyde dehydrogenase deficiency.
Journal ArticleDOI
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C. Lionel,Gregory Costain,Nasim Monfared,Susan Walker,Miriam S. Reuter,S. Mohsen Hosseini,Bhooma Thiruvahindrapuram,Daniele Merico,Rebekah Jobling,Thomas Nalpathamkalam,Giovanna Pellecchia,Wilson W L Sung,Zhuozhi Wang,Peter Bikangaga,Cyrus Boelman,Melissa T. Carter,Dawn Cordeiro,Cheryl Cytrynbaum,Sharon D. Dell,Priya Dhir,James J. Dowling,Elise Heon,Stacy Hewson,Linda T. Hiraki,Michal Inbar-Feigenberg,Regan Klatt,Regan Klatt,Jonathan B. Kronick,Ronald M. Laxer,Christoph Licht,Heather MacDonald,Heather MacDonald,Saadet Mercimek-Andrews,Roberto Mendoza-Londono,Tino D. Piscione,Rayfel Schneider,Andreas Schulze,Earl D. Silverman,Komudi Siriwardena,O. Carter Snead,Neal Sondheimer,Joanne Sutherland,Ajoy Vincent,Jonathan D. Wasserman,Rosanna Weksberg,Cheryl Shuman,Chris Carew,Michael J. Szego,Robin Z. Hayeems,Raveen K. Basran,Dimitri J. Stavropoulos,Peter N. Ray,Sarah Bowdin,M. Stephen Meyn,Ronald D. Cohn,Stephen W. Scherer,Christian R. Marshall +56 more
TL;DR: WGS as a primary clinical test provided a higher diagnostic yield than conventional genetic testing in a clinically heterogeneous cohort and confirmed recent disease associations with the genes PIGG, RNU4ATAC, TRIO, and UNC13A.
Journal ArticleDOI
Focal resection of fast ripples on extraoperative intracranial EEG improves seizure outcome in pediatric epilepsy
Tomoyuki Akiyama,Bláthnaid McCoy,Cristina Go,Ayako Ochi,Irene Elliott,Mari Akiyama,Elizabeth J. Donner,Shelly K. Weiss,O. Carter Snead,James T. Rutka,James M. Drake,Hiroshi Otsubo +11 more
TL;DR: This work evaluated the relationship of the resection of focal brain regions containing high‐rate interictal HFOs and the seizure‐onset zone (SOZ) determined by visual EEG analysis with the postsurgical seizure outcome, using extraoperative intracranial EEG monitoring in pediatric patients and automated HFO detection.