C
Cynthia Keator
Researcher at Boston Children's Hospital
Publications - 15
Citations - 556
Cynthia Keator is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Vigabatrin. The author has an hindex of 10, co-authored 12 publications receiving 369 citations.
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Journal ArticleDOI
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium
Elaine C. Wirrell,Renée A. Shellhaas,Charuta Joshi,Cynthia Keator,Shilpi Kumar,Wendy G. Mitchell +5 more
TL;DR: To prospectively evaluate the etiology of new‐onset infantile spasms and evaluate the yield of genetic and metabolic investigations in those without obvious cause after initial clinical evaluation and magnetic resonance imaging (MRI).
Journal ArticleDOI
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Anne T. Berg,Anne T. Berg,Jason Coryell,Russell P. Saneto,Zachary M. Grinspan,Zachary M. Grinspan,John J. Alexander,Mariana Kekis,Joseph Sullivan,Elaine C. Wirrell,Renée A. Shellhaas,John R. Mytinger,John R. Mytinger,William D. Gaillard,Eric H. Kossoff,Ignacio Valencia,Kelly G. Knupp,Courtney J. Wusthoff,Cynthia Keator,William B. Dobyns,Nicole Ryan,Tobias Loddenkemper,Catherine J. Chu,Edward J. Novotny,Edward J. Novotny,Sookyong Koh +25 more
TL;DR: Thorough genetic investigation emphasizing sequencing tests should be incorporated into the initial evaluation of newly presenting early-life epilepsies and not just reserved for those with severe presentations and poor outcomes.
Journal ArticleDOI
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
John Millichap,Francesco Miceli,Michela De Maria,Cynthia Keator,Nishtha Joshi,Baouyen Tran,Maria Virginia Soldovieri,Paolo Ambrosino,Vandana Shashi,Mohamad A. Mikati,Edward C. Cooper,Maurizio Taglialatela +11 more
TL;DR: It is concluded that KCNQ2 R198Q is a model for a new subclass of KCN Q2 variants causing infantile spasms and encephalopathy, without preceding neonatal seizures.
Journal ArticleDOI
The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium
Scott Demarest,Renée A. Shellhaas,William D. Gaillard,Cynthia Keator,Katherine C. Nickels,Shaun A. Hussain,Tobias Loddenkemper,Anup D. Patel,Russell P. Saneto,Elaine C. Wirrell,Iván Sánchez Fernández,Catherine J. Chu,Zachary M. Grinspan,Courtney J. Wusthoff,Sucheta M. Joshi,Ismail S. Mohamed,Carl E. Stafstrom,Cynthia V. Stack,Elissa G. Yozawitz,Judith Bluvstein,Rani K. Singh,Kelly G. Knupp +21 more
TL;DR: The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia.
Journal ArticleDOI
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.
Anne T. Berg,Anne T. Berg,Samya Chakravorty,Sookyong Koh,Zachary M. Grinspan,Zachary M. Grinspan,Renée A. Shellhaas,Russell P. Saneto,Elaine C. Wirrell,Jason Coryell,Catherine J. Chu,John R. Mytinger,William D. Gaillard,Ignacio Valencia,Kelly G. Knupp,Tobias Loddenkemper,Joseph Sullivan,Annapurna Poduri,John Millichap,John Millichap,Cynthia Keator,Courtney J. Wusthoff,Nicole Ryan,William B. Dobyns,Madhuri Hegde +24 more
TL;DR: Clear differences exist between the biological pathways leading to spasms versus other seizure types and suggest that spasms result from dysregulation of multiple developmental pathways and involve different cellular components than other seizure type.