Publications by authors named "Jeffrey D Calhoun"

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Protocol to perform multiplexed assays of variant effect using curated loci prime editing.
Carina G Biar, Nicholas Bodkin, Gemma L Carvill, Jeffrey D Calhoun

STAR Protoc· June 2025

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Combining multiplexed functional data to improve variant classification.
Jeffrey D Calhoun, Moez Dawood, Charlie F Rowlands, Shawn Fayer, Elizabeth J Radford

ArXiv· March 2025

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Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome.
Sheng Tang, Hannah Stamberger, Jeffrey D Calhoun, Sarah Weckhuysen, Gemma L Carvill

JCI Insight· February 2025

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Curated loci prime editing (cliPE) for accessible multiplexed assays of variant effect (MAVEs).
Carina G Biar, Nicholas Bodkin, Gemma L Carvill, Jeffrey D Calhoun

ArXiv· January 2025

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Multimodal framework to resolve variants of uncertain significance in .
Carina G Biar, Cole Pfeifer, Gemma L Carvill, Jeffrey D Calhoun

bioRxiv· June 2024

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Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an poison exon in epilepsy.
Hannah C Happ, Patricia N Schneider, Jung Hwa Hong, Eleanor Goes, Masha Bandouil, Jeffrey D Calhoun

bioRxiv· May 2023

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Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Alina I Esterhuizen, Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J Burman, Jeffrey D Calhoun

Genet Med· February 2023

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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, Jonathan Gunti, Colleen Gleason

Brain· June 2022

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Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, -palmitoylation, and regulated intramembrane proteolysis.
Alexandra A Bouza, Julie M Philippe, Nnamdi Edokobi, Alexa M Pinsky, James Offord, Jeffrey D Calhoun

J Biol Chem· July 2020

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CACNA1H variants are not a cause of monogenic epilepsy.
Jeffrey D Calhoun, Alexandra M Huffman, Irena Bellinski, Lisa Kinsley, Elizabeth Bachman

Hum Mutat· June 2020

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Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Emily M Bryant, John J Millichap, Egidio Spinelli, Jeffrey D Calhoun, Christopher Miller

Am J Med Genet A· June 2020

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Epilepsy Genetics: What Once Was Rare, Is Now Common.
Jeffrey Dennis Calhoun, Gemma L Carvill

Epilepsy Curr· June 2020

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Spectrum of K 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, Dennis M Echevarria, Jeffrey D Calhoun

Ann Neurol· December 2019

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Gene expression profiling in a mouse model of Dravet syndrome.
Nicole A Hawkins, Jeffrey D Calhoun, Alexandra M Huffman, Jennifer A Kearney

Exp Neurol· January 2019

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Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
Jeffrey D Calhoun, Gemma L Carvill

J Neurogenet· December 2018

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Characterization of a variant associated with autism, intellectual disability, and epilepsy.
Jeffrey D Calhoun, Carlos G Vanoye, Fernando Kok, Alfred L George, Jennifer A Kearney

Neurol Genet· December 2017

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

Epilepsia· August 2017

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Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.
Jeffrey D Calhoun, Nicole A Hawkins, Nicole J Zachwieja, Jennifer A Kearney

Epilepsia· June 2016

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The role of non-pore-forming β subunits in physiology and pathophysiology of voltage-gated sodium channels.
Jeffrey D Calhoun, Lori L Isom

Handb Exp Pharmacol· July 2014

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Identification of the cysteine residue responsible for disulfide linkage of Na+ channel α and β2 subunits.
Chunling Chen, Jeffrey D Calhoun, Yanqing Zhang, Luis Lopez-Santiago, Ningna Zhou

J Biol Chem· November 2012

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Therapeutic potential for phenytoin: targeting Na(v)1.5 sodium channels to reduce migration and invasion in metastatic breast cancer.
Ming Yang, David J Kozminski, Lindsey A Wold, Rohan Modak, Jeffrey D Calhoun

Breast Cancer Res Treat· July 2012

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Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
Gustavo A Patino, William J Brackenbury, Yangyang Bao, Luis F Lopez-Santiago, Heather A O'Malley, Jeffrey D Calhoun

J Neurosci· October 2011

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Functional reciprocity between Na+ channel Nav1.6 and beta1 subunits in the coordinated regulation of excitability and neurite outgrowth.
William J Brackenbury, Jeffrey D Calhoun, Chunling Chen, Haruko Miyazaki, Nobuyuki Nukina

Proc Natl Acad Sci U S A· February 2010

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A novel adhesion molecule in human breast cancer cells: voltage-gated Na+ channel beta1 subunit.
Athina-Myrto Chioni, William J Brackenbury, Jeffrey D Calhoun, Lori L Isom, Mustafa B A Djamgoz

Int J Biochem Cell Biol· May 2009

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