S
Sucheta M. Joshi
Researcher at University of Michigan
Publications - 40
Citations - 2492
Sucheta M. Joshi is an academic researcher from University of Michigan. The author has contributed to research in topics: Epilepsy & Population. The author has an hindex of 17, co-authored 37 publications receiving 2065 citations. Previous affiliations of Sucheta M. Joshi include Boston Children's Hospital.
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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
Response to treatment in a prospective national infantile spasms cohort
Kelly G. Knupp,Jason Coryell,Katherine C. Nickels,Nicole Ryan,Erin C. Leister,Tobias Loddenkemper,Zachary M. Grinspan,Adam L. Hartman,Eric H. Kossoff,William D. Gaillard,John R. Mytinger,Sucheta M. Joshi,Renée A. Shellhaas,Joseph Sullivan,Dennis J. Dlugos,Lorie Hamikawa,Anne T. Berg,John Millichap,Douglas R. Nordli,Elaine C. Wirrell +19 more
TL;DR: This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia in infants with infantile spasms.
Journal ArticleDOI
Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
Karen Majczenko,Ann E. Davidson,Sandra Camelo-Piragua,Pankaj B. Agrawal,Richard A. Manfready,Xingli Li,Sucheta M. Joshi,Jishu Xu,Weiping Peng,Alan H. Beggs,Jun Li,Margit Burmeister,Margit Burmeister,James J. Dowling +13 more
TL;DR: A family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that included core-like areas and increased internalized nuclei is identified and a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores is identified.
Journal ArticleDOI
Prevalence and risk factors for vitamin D insufficiency among children with epilepsy
TL;DR: Vitamin D insufficiency was highly prevalent in this unselected population of children with epilepsy, and female sex and increased body mass index were significant risk factors for low vitamin D levels, but antiepileptic drug regimen was not.