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The Heinzen Lab focuses on the genetic and genomic basis of epilepsy disorders, including analyses of the role of germline mutations, somatic mutations, and how regulation of the cellular transcriptome influences the risk and presentation of seizures.
A current area of concentration is studying the role of somatic mutations in epilepsy and other neurological diseases. Unlike inherited variation or newly acquired mutations in parental gametes that present in the germline of offspring, mutations can also be acquired somatically at some point in development after fertilization. The burden and localization of a somatically acquired mutation depends on when each mutation arises. There is accumulating evidence that new mutations can lead to disease, and in some cases, severe tissue-specific disease. Dr. Heinzen’s lab currently has active research projects seeking to identify disease-causing somatic mutations in patients with brain malformations and in patients who have drug-resistant non-lesional focal epilepsy. This research led to the identification of somatic SLC35A2 variants in intractable neocortical epilepsy. Building from this discovery, the group now also has a research program that uses induced pluripotent stem cell derived neurons to study effects of somatic SLC35A2 variants on neural development and activity and explore novel treatment approaches for this form of genetic epilepsy.
The Heinzen lab also studies the transcriptome in brain tissue of epilepsy patients to better understand how regulation at this level may cause or contribute to the presentation of epilepsy. Making use of therapeutically excised tissue specimens from patients with a range of refractory epilepsies, the lab uses a variety of experimental approaches to study the tissue and cellular transcriptome and subsequently relate transcriptional changes to pathological endpoints.
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论文共 119 篇作者统计合作学者相似作者
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Soad Elziny,Sahibjot Sran,Hyojung Yoon, Rachel R. Corrigan, John Page, Amanda Ringland, Anna Lanier, Sara Lapidus, James Foreman,Erin L. Heinzen, Philip Iffland,Peter B. Crino,Tracy A. Bedrosian
Robert J. Carton,Michael G. Doyle,Hugh Kearney,Charles A. Steward,Nicholas J. Lench,Anthony Rogers,Erin L. Heinzen, Seamus McDonald,Joanna Fay,Austin Lacey,Alan Beausang,Jane Cryan,Francesca Brett,Hany El-Naggar,Peter Widdess-Walsh,Daniel Costello,Ronan Kilbride,Colin P. Doherty,Kieron J. Sweeney,Donncha F. O'Brien,David C. Henshall,Norman Delanty,Gianpiero L. Cavalleri,Katherine A. Benson
EPILEPSIAno. 5 (2024): 1451-1461
Edith P. Almanza Fuerte,John Nguyen, Michelle Mehaffey,Arvis Sulovari,Tianyun Wang,Miranda Galey,Danny E. Miller,Evan E. Eichler,Heather C. Mefford,Bassel Abou-Khalil,Zaid Afawi Afawi,Andrew S. Allen,Dina Amrom,Eva Andermann,Jocelyn F. Bautista,Susannah T. Bellows,Samuel F. Berkovic,Judith Bluvstein,Alexis Boro,Rosemary Burgess,Gregory D. Cascino,Seo-Kyung Chung,Damian Consalvo,Patrick Cossette,Douglas E. Crompton,Patricia Crumrine,Sarah W. Curtis,Norman Delanty,Orrin Devinsky,Dennis Dlugos,Colin A. Ellis,Michael P. Epstein,Miguel Fiol,Nathan B. Fountain,Catharine Freyer, Dan Friedman,Eric B. Geller,Tracy Glauser,Simon Glynn,David B. Goldstein,Micheline Gravel,Kevin Haas,Rebekah V. Harris,Sheryl Haut,Erin L. Heinzen,Sandra Helmers,Olivia J. Henry,Sucheta Joshi,Heidi E. Kirsch,Sara Kivity,Robert C. Knowlton,Eric Kossoff,Ruben Kuzniecky,Rebecca Loeb,Daniel H. Lowenstein,Anthony G. Marson,Mark McCormack, Shannon M. McGuire,Kevin McKenna,Paul V. Motika,Saul A. Mullen,Edward J. Novotny,Terence J. O'Brien,Karen L. Oliver,Ruth Ottman,Juliann M. Paolicchi,Jack M. Parent,Kristen L. Park,Sarah J. Paterson,Slave Petrovski,William O. Pickrell,Annapurna Poduri,Mark I. Rees,Lynette G. Sadleir,Ingrid E. Scheffer,Renee A. Shellhaas,Elliott H. Sherr,Jerry J. Shih,Shlomo Shinnar,Rani K. Singh,Joseph Sirven,Michael C. Smith,Philip E. M. Smith,Michael R. Sperling,Joseph Sullivan,Liu Lin Thio,Rhys H. Thomas,Anu Venkat,Eileen P. G. Vining,Gretchen K. Von Allmen,Judith Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer
EPILEPSIAno. 3 (2024): 792-804
Brain : a journal of neurologyno. 9 (2024): 2899-2901
Jinfeng Lu,Camilo Toro,David R. Adams,Cristiane Araujo Martins Moreno,Wan-Ping Lee,Yuk Yee Leung, Mathew B. Harms,Badri Vardarajan,Erin L. Heinzen
BMC genomicsno. 1 (2024)
Avinash V Dharmadhikari,Maria Alba Abad,Sheraz Khan,Reza Maroofian,Tristan T Sands,Farid Ullah,Itaru Samejima,Martin A Wear, Kiara E Moore,Elena Kondakova, Natalia Mitina,Theres Schaub, Grace K Lee, Christine H Umandap,Sara M Berger,Alejandro D Iglesias,Bernt Popp,Rami Abou Jamra,Heinz Gabriel,Stefan Rentas,Alyssa L Rippert,Kosuke Izumi,Laura K Conlin,Daniel C Koboldt,Theresa Mihalic Mosher,Scott E Hickey,Dara V F Albert, Haley Norwood, Amy Feldman Lewanda,Hongzheng Dai, Pengfei Liu,Tadahiro Mitani,Dana Marafi,Davut Pehlivan,Jennifer E Posey,Natalie Lippa,Natalie Vena,Erin L Heinzen,David B Goldstein,Cyril Mignot,Jean-Madeleine de Sainte Agathe,Nouriya Abbas Al-Sannaa,Mina Zamani,Saeid Sadeghian,Reza Azizimalamiri, Tahere Seifia,Maha S Zaki,Ghada M H Abdel-Salam,Mohamed Abdel-Hamid,Lama Alabdi,Fowzan Sami Alkuraya,Heba Dawoud, Aya Lofty,Peter Bauer,Giovanni Zifarelli,Erum Afzal,Faisal Zafar,Stephanie Efthymiou, Daniel Gossett,Meghan C Towne, Raey Yeneabat, Sandeep N Wontakal,Vimla S Aggarwal,Jill A Rosenfeld,Victor Tarabykin,Shinya Ohta,James R Lupski,Henry Houlden,William C Earnshaw,Erica E Davis,A Arockia Jeyaprakash,Jun Liao
medrxiv(2024)
Sattar Khoshkhoo,Yilan Wang,Yasmine Chahine,E Zeynep Erson-Omay,Stephanie M Robert,Emre Kiziltug,Eyiyemisi C Damisah,Carol Nelson-Williams,Guangya Zhu,Wenna Kong,August Yue Huang,Edward Stronge,H Westley Phillips,Brian H Chhouk,Sara Bizzotto,Ming Hui Chen,Thiuni N Adikari,Zimeng Ye,Tom Witkowski,Dulcie Lai, Nadine Lee,Julie Lokan,Ingrid E Scheffer,Samuel F Berkovic,Shozeb Haider,Michael S Hildebrand,Edward Yang,Murat Gunel,Richard P Lifton,R Mark Richardson,Ingmar Blümcke,Sanda Alexandrescu,Anita Huttner,Erin L Heinzen,Jidong Zhu,Annapurna Poduri,Nihal DeLanerolle,Dennis D Spencer,Eunjung Alice Lee,Christopher A Walsh,Kristopher T Kahle
JAMA neurologyno. 6 (2023): 578-587
Sattar Khoshkhoo,Yilan Wang,Yasmine Chahine,August Yue Huang,Stephanie M. Robert,Emre Kiziltug,Eyiyemisi C. Damisah,Carol Nelson-Williams,Guangya Zhu,Wenna Kong,Edward Stronge,H. Westley Phillips,Brian H. Chhouk,Sara Bizzotto,Thiuni N. Adikari,Zimeng Ye,Tom Witkowski, Nadine Lee,Julie Lokan,Ingrid Scheffer,Sam Berkovic,Michael Hildebrand,Edward Yang,Ingmar Bluemcke,Sanda Alexandrescu,Anita Huttner,Erin L. Heinzen,Jidong Zhu,Annapurna Poduri, Nihal DeLanerolle,Dennis Spencer, Eunjung Alice Lee,Kristopher T. Kahle,Christopher A. Walsh
ANNALS OF NEUROLOGY (2023): S131-S132
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Epilepsiano. 11 (2023): 2909-2913
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#Papers: 117
#Citation: 13699
H-Index: 44
G-Index: 117
Sociability: 8
Diversity: 0
Activity: 2
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