Publications by authors named "Christopher H Thompson"

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Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.
Scott K Adney, John J Millichap, Jean-Marc DeKeyser, Tatiana Abramova, Christopher H Thompson, Alfred L George

Ann Clin Transl Neurol· September 2020

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Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties.
Lanie N Liebovitz, Christopher H Thompson, Linda L Laux, Alfred L George

bioRxiv· October 2025

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Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Jérôme Clatot, Christopher H Thompson, Susan Sotardi, Jinan Jiang, Marina Trivisano

Epilepsia· March 2025

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Genotype-function-phenotype correlations for SCN1A variants identified by clinical genetic testing.
Andrew T Knox, Christopher H Thompson, Dillon Scott, Tatiana V Abramova, Bethany Stieve

Ann Clin Transl Neurol· March 2025

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Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.
Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans

Brain· August 2024

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Scanning mutagenesis of the voltage-gated sodium channel Na1.2 using base editing.
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, Sooyeon Jo, Tobias Brünger, Christopher H Thompson

Cell Rep· June 2024

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Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant.
Seok Kyu Kang, Nicole A Hawkins, Christopher H Thompson, Erin M Baker, Dennis M Echevarria-Cooper

Neurobiol Dis· May 2024

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Molecular and cellular context influences SCN8A variant function.
Carlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra, Madeleine J Oudin, Christopher H Thompson

JCI Insight· May 2024

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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Eleni Panagiotakaki, Francesco D Tiziano, Mohamad A Mikati, Lisanne S Vijfhuizen, Sophie Nicole, Christopher H Thompson

Eur J Hum Genet· February 2024

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Molecular and Cellular Context Influences SCN8A Variant Function.
Carlos G Vanoye, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra, Madeleine J Oudin, Christopher H Thompson

bioRxiv· November 2023

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Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
Christopher H Thompson, Franck Potet, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra

J Gen Physiol· October 2023

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Scanning mutagenesis of the voltage-gated sodium channel Na1.2 using base editing.
Juan Lorenzo B Pablo, Savannah L Cornett, Lei A Wang, Sooyeon Jo, Tobias Brünger, Christopher H Thompson

Cell Rep· June 2023

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Epilepsy-associated (Na 1.2) Variants Exhibit Diverse and Complex Functional Properties.
Christopher H Thompson, Franck Potet, Tatiana V Abramova, Jean-Marc DeKeyser, Nora F Ghabra

bioRxiv· February 2023

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Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.
Dennis M Echevarria-Cooper, Nicole A Hawkins, Sunita N Misra, Alexandra M Huffman, Tyler Thaxton, Christopher H Thompson

Hum Mol Genet· August 2022

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Enhanced slow inactivation contributes to dysfunction of a recurrent SCN2A mutation associated with developmental and epileptic encephalopathy.
Surobhi Ganguly, Christopher H Thompson, Alfred L George

J Physiol· September 2021

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Cryptic prokaryotic promoters explain instability of recombinant neuronal sodium channels in bacteria.
Jean-Marc DeKeyser, Christopher H Thompson, Alfred L George

J Biol Chem· August 2021

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Functional evaluation of human ion channel variants using automated electrophysiology.
Carlos G Vanoye, Christopher H Thompson, Reshma R Desai, Jean-Marc DeKeyser, Liqi Chen

Methods Enzymol· June 2021

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SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
Tariq Zaman, Katherine L Helbig, Jérôme Clatot, Christopher H Thompson, Seok Kyu Kang

Ann Neurol· August 2020

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Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.
Christopher H Thompson, Roy Ben-Shalom, Kevin J Bender, Alfred L George

J Gen Physiol· March 2020

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Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.
Tracy S Gertler, Christopher H Thompson, Carlos G Vanoye, John J Millichap, Alfred L George

Ann Clin Transl Neurol· September 2019

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AAPL Practice Resource for the Forensic Psychiatric Evaluation of Competence to Stand Trial.
Barry W Wall, Peter Ash, Emily Keram, Debra A Pinals, Christopher H Thompson

J Am Acad Psychiatry Law· September 2018

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Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood.
Christine Q Simmons, Christopher H Thompson, Bryan E Cawthon, Grant Westlake, Kathryn J Swoboda

Neurobiol Dis· July 2018

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The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.
Erin M Baker, Christopher H Thompson, Nicole A Hawkins, Jacy L Wagnon, Eric R Wengert

Epilepsia· June 2018

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SCN1A variants associated with sudden infant death syndrome.
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles

Epilepsia· April 2018

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Unexpected Efficacy of a Novel Sodium Channel Modulator in Dravet Syndrome.
Lyndsey L Anderson, Nicole A Hawkins, Christopher H Thompson, Jennifer A Kearney, Alfred L George

Sci Rep· May 2017

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