Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Annapurna H. Poduri"'
Autor:
Christopher Mark LaCoursiere, Jeremy F.P. Ullmann, Hyun Yong Koh, Laura Turner, Cristina M. Baker, Barbara Robens, Wanqing Shao, Alexander Rotenberg, Christopher M. McGraw, Annapurna H. Poduri
Publikováno v:
iScience, Vol 27, Iss 7, Pp 110172- (2024)
Summary: Hundreds of novel candidate human epilepsy-associated genes have been identified thanks to advancements in next-generation sequencing and large genome-wide association studies, but establishing genetic etiology requires functional validation
Externí odkaz:
https://doaj.org/article/05188a78f98642c3a10f9fc1206e3639
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
A definitive, authoritative approach to evaluate the causes of unexpected, and ultimately unexplained, pediatric deaths remains elusive, relegating final conclusions to diagnoses of exclusion in the vast majority of cases. Research into unexplained p
Externí odkaz:
https://doaj.org/article/0446325b34b54530b215e28c7ee54730
Autor:
Catherine A. Brownstein, Elise Douard, Robin L. Haynes, Hyun Yong Koh, Alireza Haghighi, Christine Keywan, Bree Martin, Sanda Alexandrescu, Elisabeth A. Haas, Sara O. Vargas, Monica H. Wojcik, Sébastien Jacquemont, Annapurna H. Poduri, Richard D. Goldstein, Ingrid A. Holm
Publikováno v:
Advanced Genetics, Vol 4, Iss 1, Pp n/a-n/a (2023)
Abstract In sudden unexplained death in pediatrics (SUDP) the cause of death is unknown despite an autopsy and investigation. The role of copy number variations (CNVs) in SUDP has not been well‐studied. Chromosomal microarray (CMA) data are generat
Externí odkaz:
https://doaj.org/article/002dd2901ffe46df8ffe3375ce68af59
Autor:
Anne M. Rochtus, Richard D. Goldstein, Ingrid A. Holm, Catherine A. Brownstein, Eduardo Pérez‐Palma, Robin Haynes, Dennis Lal, Annapurna H. Poduri
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy‐related me
Externí odkaz:
https://doaj.org/article/5ae6a5af873f4ffc980a379de8f7330e
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:
Dulcie Lai, Meethila Gade, Edward Yang, Hyun Yong Koh, Nicole M. Walley, Anne F. Buckley, Tristan T. Sands, Cigdem I. Akman, Mohamad A. Mikati, Guy M. McKhann, James E. Goldman, Peter D. Canoll, Allyson L. Alexander, Kristen L. Park, Gretchen K. Von Allmen, Meenakshi B. Bhattacharjee, Hart G.W. Lidov, Hannes Vogel, Gerald A. Grant, Brenda E. Porter, Annapurna H. Poduri, Peter B. Crino, Erin L. Heinzen
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09d54f1a7b8a5e34586ff4179cebf388
https://doi.org/10.1101/2021.12.22.21267563
https://doi.org/10.1101/2021.12.22.21267563
This Element serves as a welcome to the Cambridge Elements Genetics in Epilepsy series. The series editors look forward to sharing with you the story of epilepsy genetics through a series of Elements. They will bring together many voices, by text as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cdf1ea346c6e2aa1365aac9bcc1b088
https://doi.org/10.1017/9781009000420
https://doi.org/10.1017/9781009000420
Autor:
Anne M, Rochtus, Sara, Trowbridge, Richard D, Goldstein, Beth Rosen, Sheidley, Sanjay P, Prabhu, Robin, Haynes, Hannah C, Kinney, Annapurna H, Poduri
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Early infantile epileptic encephalopathy (EIEE) is a severe disorder associated with epilepsy, developmental delay and intellectual disability, and in some cases premature mortality. We report the case of a female infant with EIEE and strikingly supp