A
Anu Venkat
Researcher at University of Pennsylvania
Publications - 8
Citations - 1878
Anu Venkat is an academic researcher from University of Pennsylvania. The author has contributed to research in topics: Epilepsy & Epilepsy syndromes. The author has an hindex of 7, co-authored 8 publications receiving 1628 citations.
Papers
More filters
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
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
Carol J. Milligan,Melody Li,Elena V. Gazina,Sarah E. Heron,Umesh Nair,Chantel Trager,Christopher A. Reid,Anu Venkat,Donald P. Younkin,Dennis J. Dlugos,Slavé Petrovski,Slavé Petrovski,David Goldstein,Leanne M. Dibbens,Ingrid E. Scheffer,Samuel F. Berkovic,Steven Petrou +16 more
TL;DR: This work aims to investigate the electrophysiological and pharmacological characteristics of hKCNT1 mutations and examine developmental expression levels in children with epilepsy of infancy with migrating focal seizures.
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
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Alex R. Paciorkowski,Ryan N. Traylor,Jill A. Rosenfeld,Jacqueline M. Hoover,Catharine J. Harris,Susan Winter,Yves Lacassie,Martin G. Bialer,Allen N. Lamb,Roger A. Schultz,Elizabeth Berry-Kravis,Brenda E. Porter,Marni J. Falk,Anu Venkat,Rena J. Vanzo,Julie S. Cohen,Ali Fatemi,William B. Dobyns,Lisa G. Shaffer,Blake C. Ballif,Eric D. Marsh +20 more
TL;DR: It is confirmed that Mef2c is present both in dorsal primary neuroblasts and ventral gamma-aminobutyric acid(GABA)ergic interneurons in the forebrain of the developing mouse.
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.