R
Rani K. Singh
Researcher at Boston Children's Hospital
Publications - 30
Citations - 1837
Rani K. Singh is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Medicine. The author has an hindex of 10, co-authored 23 publications receiving 1513 citations. Previous affiliations of Rani K. Singh include Children's National Medical Center & University of Michigan.
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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
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
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Epilepsy Phenome,Andrew S. Allen,Samuel F. Berkovic,Bradley P. Coe,Joseph Cook,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Erin L. Heinzen,Marvin Johnson,Nik Krumm,Ruben Kuzniecky,Daniel H. Lowenstein,Anthony G Marson,Heather C Mefford,Ben Nelson,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Stephen Petrou,Slavé Petrovski,Annapurna Poduri,Archana Raja,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Bassel Abou-Khalil,Brian K. Alldredge,Eva Andermann,Frederick Andermann,Dina Amron,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,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 +74 more
TL;DR: Exome sequence data is used to identify putative de novo CNVs in 349 trios with IS or LGS and highlight novel candidate genes for IS and LGS.
Journal ArticleDOI
Cognitive Outcomes in Febrile Infection-Related Epilepsy Syndrome Treated With the Ketogenic Diet
Rani K. Singh,Sucheta M. Joshi,Denise M. Potter,Steve M. Leber,Martha D. Carlson,Renée A. Shellhaas +5 more
TL;DR: 2 previously healthy children who presented with FIRES and were placed on the ketogenic diet during the acute phase of their illness and were maintained on the KD, along with other anticonvulsant medications, for several months highlight the potential value of the KD as a preferred treatment in FIRES.
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.