G
Gretchen Von Allmen
Researcher at University of Texas Health Science Center at Houston
Publications - 20
Citations - 1823
Gretchen Von Allmen is an academic researcher from University of Texas Health Science Center at Houston. The author has contributed to research in topics: Epilepsy & Medicine. The author has an hindex of 9, co-authored 15 publications receiving 1505 citations. Previous affiliations of Gretchen Von Allmen include University of Texas at Austin.
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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
Analysis of Morbidity and Outcomes Associated With Use of Subdural Grids vs Stereoelectroencephalography in Patients With Intractable Epilepsy.
Nitin Tandon,Nitin Tandon,Brian A. Tong,Elliott R. Friedman,Jessica A. Johnson,Jessica A. Johnson,Gretchen Von Allmen,Melissa S. Thomas,Omotola A Hope,Giridhar P. Kalamangalam,Jeremy D. Slater,Stephen A. Thompson +11 more
TL;DR: This direct comparison of large matched cohorts undergoing SEEG and SDE implantation reveals distinctly better procedural morbidity favoring SEEG, with SEEG being more versatile and applicable to a range of scenarios, including nonlesional and bilateral cases, than SDE.
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
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Francesca Mattioli,Elise Schaefer,Alex Magee,Paul R. Mark,Grazia M.S. Mancini,Klaus Dieterich,Gretchen Von Allmen,Marielle Alders,Charles Coutton,Marjon van Slegtenhorst,Gaëlle Vieville,Mark Engelen,Jan Maarten Cobben,Jane Juusola,Aurora Pujol,Jean-Louis Mandel,Amélie Piton +16 more
TL;DR: It is concluded that both genes contribute to the phenotypic severity of 3p25 deletion syndrome but that some specific features, such as ptosis and blepharophimosis, are mostly driven by BRPF1 haploinsufficiency.