Christopher H Thompson
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Explore the profile of Christopher H Thompson including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Thompson C, Potet F, Abramova T, DeKeyser J, Ghabra N, Vanoye C, et al.
bioRxiv
. 2023 Mar;
PMID: 36865317
Pathogenic variants in neuronal voltage-gated sodium (Na ) channel genes including , which encodes Na 1.2, are frequently discovered in neurodevelopmental disorders with and without epilepsy. is also a high...
12.
Echevarria-Cooper D, Hawkins N, Misra S, Huffman A, Thaxton T, Thompson C, et al.
Hum Mol Genet
. 2022 Apr;
31(17):2964-2988.
PMID: 35417922
Genetic variants in SCN2A, encoding the NaV1.2 voltage-gated sodium channel, are associated with a range of neurodevelopmental disorders with overlapping phenotypes. Some variants fit into a framework wherein gain-of-function missense...
13.
Ganguly S, Thompson C, George Jr A
J Physiol
. 2021 Jul;
599(18):4375-4388.
PMID: 34287911
Key Points: The recurrent SCN2A mutation R853Q is associated with developmental and epileptic encephalopathy with typical onset after the first months of life. Heterologously expressed R853Q channels exhibit an overall...
14.
Vanoye C, Thompson C, Desai R, DeKeyser J, Chen L, Rasmussen-Torvik L, et al.
Methods Enzymol
. 2021 Jun;
654:383-405.
PMID: 34120723
Patch clamp recording enabled a revolution in cellular electrophysiology, and is useful for evaluating the functional consequences of ion channel gene mutations or variants associated with human disorders called channelopathies....
15.
DeKeyser J, Thompson C, George Jr A
J Biol Chem
. 2021 Jan;
296:100298.
PMID: 33460646
Mutations in genes encoding the human-brain-expressed voltage-gated sodium (Na) channels Na1.1, Na1.2, and Na1.6 are associated with a variety of human diseases including epilepsy, autism spectrum disorder, familial migraine, and...
16.
Adney S, Millichap J, DeKeyser J, Abramova T, Thompson C, George Jr A
Ann Clin Transl Neurol
. 2020 Aug;
7(9):1488-1501.
PMID: 32750235
Objective: We identified a novel de novo SCN2A variant (M1879T) associated with infantile-onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. We analyzed the functional and pharmacological consequences...
17.
Zaman T, Helbig K, Clatot J, Thompson C, Kang S, Stouffs K, et al.
Ann Neurol
. 2020 Jun;
88(2):348-362.
PMID: 32515017
Objective: Pathogenic variants in SCN3A, encoding the voltage-gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic,...
18.
Thompson C, Ben-Shalom R, Bender K, George A
J Gen Physiol
. 2020 Jan;
152(3).
PMID: 31995133
Epileptic encephalopathies are severe forms of infantile-onset epilepsy often complicated by severe neurodevelopmental impairments. Some forms of early-onset epileptic encephalopathy (EOEE) have been associated with variants in SCN2A, which encodes...
19.
Gertler T, Thompson C, Vanoye C, Millichap J, George Jr A
Ann Clin Transl Neurol
. 2019 Sep;
6(9):1606-1615.
PMID: 31560846
Objective: We identified a novel de novo KCNT1 variant in a patient with early-infantile epileptic encephalopathy (EIEE) and status dystonicus, a life-threatening movement disorder. We determined the functional consequences of...
20.
Wall B, Ash P, Keram E, Pinals D, Thompson C
J Am Acad Psychiatry Law
. 2018 Oct;
46(3):373.
PMID: 30368470
Full Document: Wall BW, Ash P, Keram E, et al: AAPL Practice Resource for the Forensic Psychiatric Evaluation of Competence to Stand Trial Update 2018. Journal of the American Academy...