R
Rachel Kuperman
Researcher at Boston Children's Hospital
Publications - 27
Citations - 3017
Rachel Kuperman is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Everolimus. The author has an hindex of 15, co-authored 26 publications receiving 2519 citations. Previous affiliations of Rachel Kuperman include University of California, San Francisco & Children's Hospital Oakland.
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Journal ArticleDOI
De novo mutations in epileptic encephalopathies
Andrew S. Allen,Samuel F. Berkovic,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Yujun Han,Erin L. Heinzen,Yuki Hitomi,Katherine B. Howell,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Yi-Fan Lu,Maura Madou,Anthony G Marson,Heather C Mefford,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Slavé Petrovski,Annapurna Poduri,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Christopher J. Yuskaitis,Bassel Abou-Khalil,Brian K. Alldredge,Jocelyn F. Bautista,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Simon Glynn,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Juliann M. Paolicchi,Jack M. Parent,Jack M. Parent,Kristen Park,Renée A. Shellhaas,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +72 more
TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.
Journal ArticleDOI
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
David Neal Franz,Elena Belousova,Steven Sparagana,E. Martina Bebin,Michael Frost,Rachel Kuperman,Olaf Witt,Michael Kohrman,J. Robert Flamini,Joyce Y. Wu,Paolo Curatolo,Petrus J. de Vries,Vicky Whittemore,Elizabeth A. Thiele,James Ford,Gaurav D. Shah,Helene Cauwel,David Lebwohl,Tarek Sahmoud,Sergiusz Jozwiak +19 more
TL;DR: These results support the use of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis and suggest it might represent a disease-modifying treatment for other aspects of tuberousclerosis.
Journal ArticleDOI
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Andrew S. Allen,Susannah T. Bellows,Samuel F. Berkovic,Joshua Bridgers,Rosemary Burgess,Gianpiero L. Cavalleri,Seo-Kyung Chung,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Michael P. Epstein,Catharine Freyer,David Goldstein,Erin L. Heinzen,Michael S. Hildebrand,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Anthony G Marson,Richard Mayeux,Caroline Mebane,Heather C Mefford,Terence J. O'Brien,Ruth Ottman,Steven Petrou,Slavgé Petrovski,William O. Pickrell,Annapurna Poduri,Rodney A. Radtke,Mark I. Rees,Brigid M. Regan,Zhong Ren,Ingrid E. Scheffer,Graeme J. Sills,Rhys H. Thomas,Quanli Wang,Bassel Abou-Khalil,Brian K. Alldredge,Dina Amrom,Eva Andermann,Frederick Andermann,Jocelyn F. Bautista,Judith Bluvstein,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Tracy A. Glauser,Simon Glynn,Kevin Haas,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Jack M. Parent,Kristen Park,Lynette G. Sadleir,Renée A. Shellhaas,Elliott H. Sherr,Jerry J. Shih,Shlomo Shinnar,Rani K. Singh,Joseph I Sirven,Mike Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +85 more
TL;DR: Excess ultra-rare variation in known epilepsy genes is identified, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population.
Journal ArticleDOI
Dynamic Changes in Phase-Amplitude Coupling Facilitate Spatial Attention Control in Fronto-Parietal Cortex
Sara M. Szczepanski,Nathan E. Crone,Rachel Kuperman,Kurtis I. Auguste,Josef Parvizi,Robert T. Knight +5 more
TL;DR: Electrocorticography reveals how coupling between two frequencies of neuronal oscillation allows the frontal and parietal areas of the cortex to control visual attention from moment to moment in the human brain.
Journal ArticleDOI
Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study
David Neal Franz,Elena Belousova,Steven Sparagana,E. Martina Bebin,Michael Frost,Rachel Kuperman,Olaf Witt,Michael Kohrman,J. Robert Flamini,Joyce Y. Wu,Paolo Curatolo,Petrus J. de Vries,Noah Berkowitz,Oezlem Anak,Julie Niolat,Sergiusz Jozwiak +15 more
TL;DR: Interim data from a prospective, open-label extension of a multicentre, phase 3, randomised, double-blind, placebo-controlled study in patients with tuberous sclerosis complex who had SEGA that was growing and needed treatment support the longer-term use of everolimus.