Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Brenda E. Porter"'
Autor:
Emily M. Spelbrink, Tanya L. Brown, Elise Brimble, Kirsten A. Blanco, Kimberly L. Nye, Brenda E. Porter
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical rec
Externí odkaz:
https://doaj.org/article/f377deb466ff4b808940718c42dfbf9a
Publikováno v:
Metabolites, Vol 11, Iss 11, p 746 (2021)
We were interested in elucidating the non-neurologic health of patients with autosomal recessive SLC13A5 Citrate Transporter (NaCT) Disorder. Multiple variants have been reported that cause a loss of transporter activity, resulting in significant neu
Externí odkaz:
https://doaj.org/article/295c0f16012f45c28b1cd63939c1d7cc
Autor:
Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 61-66 (2016)
Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal recessive neurometabolic disorder that presents with a broad-spectrum of neurological and physiological symptoms. The ADSL gene produces an enzyme with binary molecular roles in de novo pur
Externí odkaz:
https://doaj.org/article/1072fbbcdd2b4167a53bf4ff0a667820
Publikováno v:
Neurobiology of Disease, Vol 45, Iss 1, Pp 253-263 (2012)
Epilepsy is a common neurologic disorder yet no treatments aimed at preventing epilepsy have been developed. Several molecules including genes containing cAMP response elements (CREs) in their promoters have been identified that contribute to the dev
Externí odkaz:
https://doaj.org/article/8f90243001f44d1e9ff002e2c15a65c0
Publikováno v:
Neurobiology of Disease, Vol 39, Iss 3, Pp 439-448 (2010)
The perineuronal net (PN), a component of the neural extracellular matrix (ECM), is a dynamic structure whose expression decreases following diminished physiological activity. Here, we analyzed the effects of increased neuronal activity on the develo
Externí odkaz:
https://doaj.org/article/742bb761f52c433a990007b488deb286
Autor:
Brenda E. Porter, Guojun Zhang, Juanita Celix, Fu-chun Hsu, YogendraSinh H. Raol, Albert Telfeian, Paul R. Gallagher, Douglas A. Coulter, Amy R. Brooks-Kayal
Publikováno v:
Neurobiology of Disease, Vol 18, Iss 3, Pp 484-491 (2005)
The γ-amino-butyric acid type A receptors (GABAAR) are a heteropentameric receptor complex, composed of 16 possible subunits in various combinations, forming a ligand-gated ion channel. Subunit composition is the primary determinant of GABAAR physio
Externí odkaz:
https://doaj.org/article/3e8fcd5e37794536bad65ff2e7afa014
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0b2b7f5942fbcfd8d506aab27f2811
https://doi.org/10.1212/wnl.0000000000201492
https://doi.org/10.1212/wnl.0000000000201492
Autor:
Maaike, Nijman, Edward, Yang, Camilo, Jaimes, Anna K, Prohl, Mustafa, Sahin, Darcy A, Krueger, Joyce Y, Wu, Hope, Northrup, Scellig S D, Stone, Joseph R, Madsen, Aria, Fallah, Jeffrey P, Blount, Howard L, Weiner, Leslie, Grayson, E Martina, Bebin, Brenda E, Porter, Simon K, Warfield, Sanjay P, Prabhu, Jurriaan M, Peters
Publikováno v:
Journal of Neuroimaging. 32:991-1000
The success of epilepsy surgery in children with tuberous sclerosis complex (TSC) hinges on identification of the epileptogenic zone (EZ). We studied structural MRI markers of epileptogenic lesions in young children with TSC.We included 26 children w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::066f00bfd9752e1feee40c22fa4bd08d
https://doi.org/10.1111/jon.13016
https://doi.org/10.1111/jon.13016
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b668f913d3777727e5607d37b9cf55d9
https://doi.org/10.1093/brain/awac117
https://doi.org/10.1093/brain/awac117
Autor:
Torin Karsonovich, John Ragheb, Hiroki Nariai, Jia-Shu Chen, Robert J. Bollo, Shelly Wang, Marytery Fajardo, Lynette Holman, Shaun A. Hussain, Aria Fallah, Kristina K. Murata, Gerald A. Grant, Thomas M Zervos, Brent R. O'Neill, Allyson L Alexander, Jonathon J. Parker, H. Westley Phillips, Yasunori Nagahama, Brenda E. Porter
Publikováno v:
Neurosurgery
Neurosurgery, vol 89, iss 6
Neurosurgery, vol 89, iss 6
BackgroundDespite the well-documented utility of responsive neurostimulation (RNS, NeuroPace) in adult epilepsy patients, literature on the use of RNS in children is limited.ObjectiveTo determine the real-world efficacy and safety of RNS in pediatric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74aee12a009e546ce79a28af858f3e1b
https://doi.org/10.1093/neuros/nyab343
https://doi.org/10.1093/neuros/nyab343