Zobrazeno 1 - 10
of 111
pro vyhledávání: '"Erin L, Heinzen"'
Autor:
Jinfeng Lu, Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Cristiane Araujo Martins Moreno, Wan-Ping Lee, Yuk Yee Leung, Mathew B. Harms, Badri Vardarajan, Erin L. Heinzen
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-22 (2024)
Abstract Background Short tandem repeats (STRs) are widely distributed across the human genome and are associated with numerous neurological disorders. However, the extent that STRs contribute to disease is likely under-estimated because of the chall
Externí odkaz:
https://doaj.org/article/10f83745c1f7435fb5ac3dd6aa04ee9f
Autor:
Timothy E. Green, Atsushi Fujita, Navid Ghaderi, Erin L. Heinzen, Naomichi Matsumoto, Karl Martin Klein, Samuel F. Berkovic, Michael S. Hildebrand
Publikováno v:
Neurobiology of Disease, Vol 185, Iss , Pp 106261- (2023)
Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of di
Externí odkaz:
https://doaj.org/article/978ff4f601e5419aad7e87976f85333c
Autor:
Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100810- (2023)
Purpose: Hypothalamic hamartoma (HH) can be syndromic (eg, Pallister-Hall syndrome [PHS], HH, and mesoaxial polydactyly) or nonsyndromic. Most PHS cases have germline variants in GLI3, but a minority remain unresolved. Some nonsyndromic HH cases have
Externí odkaz:
https://doaj.org/article/939d0ee271c64f53839c1bf55c7c6650
Autor:
Karen L. Oliver, Colin A. Ellis, Ingrid E. Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis, Rebekah V. Harris, David C. Whiteman, Ingo Helbig, Ruth Ottman, Michael P. Epstein, Melanie Bahlo, Samuel F. Berkovic
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104079- (2022)
Summary: Background: The epilepsies are highly heritable conditions that commonly follow complex inheritance. While monogenic causes have been identified in rare familial epilepsies, most familial epilepsies remain unsolved. We aimed to determine (1)
Externí odkaz:
https://doaj.org/article/e6ab89744c3c49e6bb0fbb1187c051fd
Autor:
Francesco Miceli, Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel, Natalie Lippa, Louise Bier, David B. Goldstein, Edward C. Cooper, Maria Roberta Cilio, Maurizio Taglialatela, Tristan T. Sands
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early−onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from b
Externí odkaz:
https://doaj.org/article/05430e2eb7dd4b1fbcd4f49e2c141c8d
Autor:
Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict
Externí odkaz:
https://doaj.org/article/416a7ceb757b4b1cb818a138ccea63b5
Autor:
Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lu, Nicole M Walley, Anne F Buckley, Tristan T Sands, Cigdem I Akman, Mohamad A Mikati, Guy M McKhann, James E Goldman, Peter Canoll, Allyson L Alexander, Kristen L Park, Gretchen K Von Allmen, Olga Rodziyevska, Meenakshi B Bhattacharjee, Hart G W Lidov, Hannes Vogel, Gerald A Grant, Brenda E Porter, Annapurna H Poduri, Peter B Crino, Erin L Heinzen
Publikováno v:
Brain
Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants
Autor:
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
Publikováno v:
Hum Mol Genet
Hypothalamic hamartoma with gelastic seizures is a well-established cause of drug-resistant epilepsy in early life. The development of novel surgical techniques has permitted the genomic interrogation of hypothalamic hamartoma tissue. This has reveal
Autor:
Anna R. Docherty, Vimla Aggarwal, James M. McNamara, Ayan Malakar, Daniel Hughes, Andrey A. Shabalin, Anat Grossman-Jonish, Lior Greenbaum, Gundula Povysil, Shannon Delaney, Hann-Shyan Hwang, Evan H. Baugh, David Goldstein, Anna Alkelai, Emma P. Peabody, Matthew B. Harms, Sahar Gelfman, Bernard Lerer, Vaidehi Jobanputra, Ann E. Pulver, Anthony W. Zoghbi, Erin L. Heinzen
Publikováno v:
Molecular Psychiatry. 27:1435-1447
Schizophrenia has a multifactorial etiology, involving a polygenic architecture. The potential benefit of whole genome sequencing (WGS) in schizophrenia and other psychotic disorders is not well studied. We investigated the yield of clinical WGS anal
Autor:
Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E. Zeynep Erson-Omay, Stephanie 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
ImportanceMesial temporal lobe epilepsy (MTLE) is the most common focal epilepsy subtype and is often refractory to anti-seizure medications. While most MTLE patients do not have pathogenic germline genetic variants, the contribution of post-zygotic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ecb85c906360f137538ac9a7adb0c28c
https://doi.org/10.1101/2022.12.23.22283854
https://doi.org/10.1101/2022.12.23.22283854