Search Results - "Calhoun, Jeffrey D."

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome by Calhoun, Jeffrey D., Hawkins, Nicole A., Zachwieja, Nicole J., Kearney, Jennifer A.

“…Summary Dravet syndrome, an early onset epileptic encephalopathy, is most often caused by de novo mutation of the neuronal voltage‐gated sodium channel gene…”
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Therapeutic potential for phenytoin: targeting Nav1.5 sodium channels to reduce migration and invasion in metastatic breast cancer by Yang, Ming, Kozminski, David J., Wold, Lindsey A., Modak, Rohan, Calhoun, Jeffrey D., Isom, Lori L., Brackenbury, William J.

“…Voltage-gated Na + channels (VGSCs) are heteromeric membrane protein complexes containing pore-forming α subunits and smaller, non-pore-forming β subunits…”
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Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage‐gated sodium channel Scn2a by Calhoun, Jeffrey D., Hawkins, Nicole A., Zachwieja, Nicole J., Kearney, Jennifer A.

“…Summary More than 1,200 mutations in neuronal voltage‐gated sodium channel (VGSC) genes have been identified in patients with several epilepsy syndromes. A…”
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Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy by Patino, Gustavo A, Brackenbury, William J, Bao, Yangyang, Lopez-Santiago, Luis F, O'Malley, Heather A, Chen, Chunling, Calhoun, Jeffrey D, Lafrenière, Ron G, Cossette, Patrick, Rouleau, Guy A, Isom, Lori L

“…Scn1b-null mice have a severe neurological and cardiac phenotype. Human mutations in SCN1B result in epilepsy and cardiac arrhythmia. SCN1B is expressed as two…”
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Gene expression profiling in a mouse model of Dravet syndrome by Hawkins, Nicole A., Calhoun, Jeffrey D., Huffman, Alexandra M., Kearney, Jennifer A.

“…Dravet syndrome is a severe, early-onset epileptic encephalopathy frequently resulting from de novo mutations of SCN1A. Mice with heterozygous deletion of…”
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Therapeutic potential for phenytoin: targeting Na(v)1.5 sodium channels to reduce migration and invasion in metastatic breast cancer by Yang, Ming, Kozminski, David J, Wold, Lindsey A, Modak, Rohan, Calhoun, Jeffrey D, Isom, Lori L, Brackenbury, William J

“…Voltage-gated Na(+) channels (VGSCs) are heteromeric membrane protein complexes containing pore-forming α subunits and smaller, non-pore-forming β subunits…”
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CACNA1H variants are not a cause of monogenic epilepsy by Calhoun, Jeffrey D., Huffman, Alexandra M., Bellinski, Irena, Kinsley, Lisa, Bachman, Elizabeth, Gerard, Elizabeth, Kearney, Jennifer A., Carvill, Gemma L.

“…CACNA1H genetic variants were originally reported in a childhood absence epilepsy cohort. Subsequently, genetic testing for CACNA1H became available and is…”
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Identification of the Cysteine Residue Responsible for Disulfide Linkage of Na+ Channel α and β2 Subunits by Chen, Chunling, Calhoun, Jeffrey D., Zhang, Yanqing, Lopez-Santiago, Luis, Zhou, Ningna, Davis, Tigwa H., Salzer, James L., Isom, Lori L.

“…Voltage-gated Na+ channels in the brain are composed of a single pore-forming α subunit, one non-covalently linked β subunit (β1 or β3), and one…”
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Functional reciprocity between Na+ channel Nav1.6 and β1 subunits in the coordinated regulation of excitability and neurite outgrowth by Brackenbury, William J., Calhoun, Jeffrey D., Chen, Chunling, Miyazaki, Haruko, Nukina, Nobuyuki, Oyama, Fumitaka, Ranscht, Barbara, Isom, Lori L.

“…Voltage-gated Na + channel (VGSC) β1 subunits regulate cell–cell adhesion and channel activity in vitro. We previously showed that β1 promotes neurite…”
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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion by Calhoun, Jeffrey D, Aziz, Miriam C, Happ, Hannah C, Gunti, Jonathan, Gleason, Colleen, Mohamed, Najma, Zeng, Kristy, Hiller, Meredith, Bryant, Emily, Mithal, Divakar S, Bellinski, Irena, Kinsley, Lisa, Grimmel, Mona, Schwaibold, Eva M C, Smith-Hicks, Constance, Chassevent, Anna, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Striano, Pasquale, Capra, Valeria, Bird, Lynne M, Ben-Sahra, Issam, Ekhilevich, Nina, Hershkovitz, Tova, Weiss, Karin, Millichap, John, Gerard, Elizabeth E, Carvill, Gemma L

“…Biallelic pathogenic variants in SZT2 result in a neurodevelopmental disorder with shared features, including early-onset epilepsy, developmental delay,…”
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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation by Bryant, Emily M., Millichap, John J., Spinelli, Egidio, Calhoun, Jeffrey D., Miller, Christopher, Giannelli, Jessica, Wolak, Jacqueline, Sanders, Victoria, Carvill, Gemma L., Charrow, Joel

“…Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all…”
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Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era by Calhoun, Jeffrey D., Carvill, Gemma L.

“…The technological advancement of next-generation sequencing has greatly accelerated the pace of variant discovery in epilepsy. Despite an initial focus on…”
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Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis by Bouza, Alexandra A., Philippe, Julie M., Edokobi, Nnamdi, Pinsky, Alexa M., Offord, James, Calhoun, Jeffrey D., Lopez-Florán, Mariana, Lopez-Santiago, Luis F., Jenkins, Paul M., Isom, Lori L.

“…Voltage-gated sodium channel (VGSC) β1 subunits are multifunctional proteins that modulate the biophysical properties and cell-surface localization of VGSC α…”
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Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting by Esterhuizen, Alina I., Tiffin, Nicki, Riordan, Gillian, Wessels, Marie, Burman, Richard J., Aziz, Miriam C., Calhoun, Jeffrey D., Gunti, Jonathan, Amiri, Ezra E., Ramamurthy, Aishwarya, Bamshad, Michael J., Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Bacus, Tamara J., Blue, Elizabeth E., Brower, Katherine, Buckingham, Kati J., Chong, Jessica X., Cornejo Sánchez, Diana, Davis, Colleen P., Davis, Chayna J., Frazar, Christian D., Gomeztagle-Burgess, Katherine, Gordon, William W., Horike-Pyne, Martha, Hurless, Jameson R., Jarvik, Gail P., Johanson, Eric, Thomas Kolar, J., Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Mekonnen, Betselote, Nielsen, Patrick M., Patterson, Karynne, Radhakrishnan, Aparna, Richardson, Matthew A., Roote, Gwendolin T., Ryke, Erica L., Schrauwen, Isabelle, Shively, Kathryn M., Smith, Joshua D., Tackett, Monica, Wang, Gao, Weiss, Jeffrey M., Wheeler, Marsha M., Yi, Qian, Zhang, Xiaohong, Mefford, Heather C., Ramesar, Raj, Wilmshurst, Jo M., Carvill, Gemma L.

“…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…”
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Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders by Kang, Seok Kyu, Vanoye, Carlos G, Misra, Sunita N, Echevarria, Dennis M, Calhoun, Jeffrey D, O'Connor, John B, Fabre, Katarina L, McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E, Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A, Torkamani, Ali, van der Smagt, Jasper, van Gassen, Koen, Carson, Robert P, Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E, Hannibal, Mark C, Litwin, Jessica, Friedman, Neil R, Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D, Goldberg, Ethan M, Millichap, John J, George, Jr, Alfred L, Kearney, Jennifer A

“…Pathogenic variants in KCNB1, encoding the voltage-gated potassium channel K 2.1, are associated with developmental and epileptic encephalopathy (DEE)…”
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Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy by Calhoun, Jeffrey D, Vanoye, Carlos G, Kok, Fernando, George, Jr, Alfred L, Kearney, Jennifer A

“…To perform functional characterization of a potentially pathogenic variant identified by clinical exome sequencing of a proband with a neurodevelopmental…”
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The role of non-pore-forming β subunits in physiology and pathophysiology of voltage-gated sodium channels by Calhoun, Jeffrey D, Isom, Lori L

“…Voltage-gated sodium channel β1 and β2 subunits were discovered as auxiliary proteins that co-purify with pore-forming α subunits in brain. The other family…”
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Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders by Kang, Seok Kyu, Vanoye, Carlos G., Misra, Sunita N., Echevarria, Dennis M., Calhoun, Jeffrey D., O'Connor, John B., Fabre, Katarina L., McKnight, Dianalee, Demmer, Laurie, Goldenberg, Paula, Grote, Lauren E., Thiffault, Isabelle, Saunders, Carol, Strauss, Kevin A., Torkamani, Ali, der Smagt, Jasper, Gassen, Koen, Carson, Robert P., Diaz, Jullianne, Leon, Eyby, Jacher, Joseph E., Hannibal, Mark C., Litwin, Jessica, Friedman, Neil R., Schreiber, Allison, Lynch, Bryan, Poduri, Annapurna, Marsh, Eric D., Goldberg, Ethan M., Millichap, John J., George, Alfred L., Kearney, Jennifer A.

“…Objective Pathogenic variants in KCNB1, encoding the voltage‐gated potassium channel KV2.1, are associated with developmental and epileptic encephalopathy…”
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A novel adhesion molecule in human breast cancer cells: Voltage-gated Na+ channel β1 subunit by Chioni, Athina-Myrto, Brackenbury, William J., Calhoun, Jeffrey D., Isom, Lori L., Djamgoz, Mustafa B.A.

“…Voltage-gated Na+ channels (VGSCs), predominantly the ‘neonatal’ splice form of Nav1.5 (nNav1.5), are upregulated in metastatic breast cancer (BCa) and…”
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Modulation of Kv1 Voltage-Gated Potassium Channels by Sodium Channel Beta Subunits by Nguyen, Hai M., Calhoun, Jeffrey D., Isom, Lori L., Goldin, Alan L., Chandy, George K.

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