Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Jeffrey D Calhoun"'
Autor:
Hannah C Happ, Patricia N Schneider, Jung Hwa Hong, Eleanor Goes, Masha Bandouil, Carina G. Biar, Aishwarya Ramamurthy, Fairlie Reese, Krysta Engel, Sarah Weckhuysen, Ingrid E Scheffer, Heather C Mefford, Jeffrey D Calhoun, Gemma L Carvill
Publikováno v:
bioRxiv
Pathogenic loss-of-functionSCN1Avariants cause a spectrum of seizure disorders. We previously identified variants in individuals withSCN1A-related epilepsy that fall in or near a poison exon (PE) inSCN1Aintron 20 (20N). We hypothesized these variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb40aa0bd11091b588786ae54a7f997
https://doi.org/10.1101/2023.05.04.538282
https://doi.org/10.1101/2023.05.04.538282
Autor:
Alina I. Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz, Jeffrey D. Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Raj Ramesar, Jo M. Wilmshurst, Gemma L. Carvill
PurposeSub-Saharan Africa bears the highest burden of epilepsy worldwide. A presumed proportion is genetic, but this aetiology is buried under the burden of infections and perinatal insults, in a setting of limited awareness and few options for testi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d46e656eb9de4a9dc9bad87081f2cda4
https://doi.org/10.1101/2022.08.17.22278768
https://doi.org/10.1101/2022.08.17.22278768
Autor:
James Offord, Luis F. Lopez-Santiago, Julie M. Philippe, Nnamdi Edokobi, Alexandra A. Bouza, Alexa M. Pinsky, Mariana Lopez-Florán, Lori L. Isom, Jeffrey D. Calhoun, Paul M. Jenkins
Publikováno v:
Journal of Biological Chemistry. 295:10380-10393
Voltage-gated sodium channel (VGSC) β1 subunits are multifunctional proteins that modulate the biophysical properties and cell-surface localization of VGSC α subunits and participate in cell–cell and cell–matrix adhesion, all with important imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c3fb3a02056b9b57aba154e11d15eb4
https://doi.org/10.1074/jbc.ra120.013978
https://doi.org/10.1074/jbc.ra120.013978
Autor:
Gemma L. Carvill, Jacqueline J Wolak, Joel Charrow, Christopher Miller, Emily Bryant, Victoria R. Sanders, Jeffrey D. Calhoun, Jessica Giannelli, John Millichap, Egidio Spinelli
Publikováno v:
American Journal of Medical Genetics Part A. 182:1460-1465
Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c2f41cc0c64c3bdbc39dbafcdaac40c
https://doi.org/10.1002/ajmg.a.61553
https://doi.org/10.1002/ajmg.a.61553
Autor:
Alina I. Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz, Jeffrey D. Calhoun, Jonathan Gunti, Ezra E. Amiri, Aishwarya Ramamurthy, Michael J. Bamshad, Heather C. Mefford, Raj Ramesar, Jo M. Wilmshurst, Gemma L. Carvill, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Tamara J. Bacus, Elizabeth E. Blue, Katherine Brower, Kati J. Buckingham, Jessica X. Chong, Diana Cornejo Sánchez, Colleen P. Davis, Chayna J. Davis, Christian D. Frazar, Katherine Gomeztagle-Burgess, William W. Gordon, Martha Horike-Pyne, Jameson R. Hurless, Gail P. Jarvik, Eric Johanson, J. Thomas Kolar, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Betselote Mekonnen, Patrick M. Nielsen, Karynne Patterson, Aparna Radhakrishnan, Matthew A. Richardson, Gwendolin T. Roote, Erica L. Ryke, Isabelle Schrauwen, Kathryn M. Shively, Joshua D. Smith, Monica Tackett, Gao Wang, Jeffrey M. Weiss, Marsha M. Wheeler, Qian Yi, Xiaohong Zhang
Publikováno v:
Genetics in Medicine. 25:100333
Sub-Saharan Africa bears the highest burden of epilepsy worldwide. A presumed proportion is genetic, but this etiology is buried under the burden of infections and perinatal insults in a setting of limited awareness and few options for testing. Child
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc71570631a3fb0fd9ec5c81f1fc114f
https://doi.org/10.1016/j.gim.2022.11.002
https://doi.org/10.1016/j.gim.2022.11.002
Autor:
Gemma L. Carvill, Jeffrey D. Calhoun
Publikováno v:
Epilepsy Currents
Ultrarare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17 606 Individuals Epi25 Collaborative. Am J Hum Genet. 2019;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020.Sequencing-based studies have identified novel risk genes as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22866abb318249ea327ffc1d2ca7f258
http://europepmc.org/articles/PMC7427164
http://europepmc.org/articles/PMC7427164
Autor:
Paula Goldenberg, Jeffrey D. Calhoun, Eyby Leon, Sunita N. Misra, Ethan M. Goldberg, Carlos G. Vanoye, Isabelle Thiffault, Kevin A. Strauss, Jennifer A. Kearney, Neil R. Friedman, Ali Torkamani, John Millichap, Jasper J. van der Smagt, Lauren E. Grote, Mark C. Hannibal, Katarina L. Fabre, Dennis M. Echevarria, Robert P. Carson, Dianalee McKnight, Jullianne Diaz, Jessica Litwin, Bryan Lynch, Annapurna Poduri, John B. O’Connor, Eric D. Marsh, Alfred L. George, Carol J. Saunders, Allison Schreiber, Joseph E. Jacher, Laurie A. Demmer, Koen L.I. van Gassen, Seok Kyu Kang
Publikováno v:
Annals of Neurology. 86:899-912
Objective Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel KV 2.1, are associated with developmental and epileptic encephalopathy (DEE). Previous functional studies on a limited number of KCNB1 variants indicated a range of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69abf78f0f0b4bc06b00f2408a76c8e1
https://doi.org/10.1002/ana.25607
https://doi.org/10.1002/ana.25607
Publikováno v:
Experimental Neurology. 311:247-256
Dravet syndrome is a severe, early-onset epileptic encephalopathy frequently resulting from de novo mutations of SCN1A. Mice with heterozygous deletion of Scn1a (Scn1a(+/−)) model many features of Dravet syndrome, including spontaneous seizures and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48cf490a10bcc6d1776776baf2ee3747
https://doi.org/10.1016/j.expneurol.2018.10.010
https://doi.org/10.1016/j.expneurol.2018.10.010
Autor:
Issam Ben-Sahra, Mona Grimmel, Marcello Scala, Nina Ekhilevich, Valeria Capra, Hannah C Happ, Gemma L. Carvill, John Millichap, Lynne M. Bird, Anna Chassevent, Meredith Hiller, Eva M. C. Schwaibold, Tova Hershkovitz, Miriam C. Aziz, Najma Mohamed, Constance Smith-Hicks, Irena Bellinski, Elizabeth E. Gerard, Andrea Accogli, Kristy Zeng, Colleen Gleason, Jonathan Gunti, Lisa Kinsley, Pasquale Striano, Emily Bryant, Karin Weiss, Jeffrey D. Calhoun, Divakar S. Mithal, Annalaura Torella
Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay, macrocephaly, and corpus callosum abnormalities. SZT2 is as a critical scaffolding protein in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3ce051f8837d3f7d7f0eb6e3f966924
https://hdl.handle.net/11567/1119258
https://hdl.handle.net/11567/1119258
Autor:
Alexandra A, Bouza, Julie M, Philippe, Nnamdi, Edokobi, Alexa M, Pinsky, James, Offord, Jeffrey D, Calhoun, Mariana, Lopez-Florán, Luis F, Lopez-Santiago, Paul M, Jenkins, Lori L, Isom
Publikováno v:
J Biol Chem
Voltage-gated sodium channel (VGSC) β1 subunits are multifunctional proteins that modulate the biophysical properties and cell-surface localization of VGSC α subunits and participate in cell–cell and cell–matrix adhesion, all with important imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e0a08c74df5d3b789c0e72f3b6ca47f2
https://pubmed.ncbi.nlm.nih.gov/32503841
https://pubmed.ncbi.nlm.nih.gov/32503841