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
1.
Knox A, Thompson C, Scott D, Abramova T, Stieve B, Freeman A, et al.
Ann Clin Transl Neurol
. 2025 Jan;
PMID: 39838578
Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants...
2.
Clatot J, Thompson C, Sotardi S, Jiang J, Trivisano M, Balestrini S, et al.
Epilepsia
. 2024 Dec;
66(3):914-928.
PMID: 39707911
Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in...
3.
Pablo J, Cornett S, Wang L, Jo S, Brunger T, Budnik N, et al.
Cell Rep
. 2024 Jun;
43(6):114327.
PMID: 38823014
No abstract available.
4.
Vanoye C, Abramova T, DeKeyser J, Ghabra N, Oudin M, Burge C, et al.
JCI Insight
. 2024 May;
9(12).
PMID: 38771640
Pathogenic variants in SCN8A, which encodes the voltage-gated sodium (NaV) channel NaV1.6, associate with neurodevelopmental disorders, including developmental and epileptic encephalopathy. Previous approaches to determine SCN8A variant function may be...
5.
Berg A, Thompson C, Myers L, Anderson E, Evans L, Kaiser A, et al.
Brain
. 2024 Apr;
147(8):2761-2774.
PMID: 38651838
SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel Nav1.2 are rare, with clinically heterogeneous expressions that include epilepsy, autism and multiple severe to profound impairments and other...
6.
Kang S, Hawkins N, Thompson C, Baker E, Echevarria-Cooper D, Barse L, et al.
Neurobiol Dis
. 2024 Mar;
194:106470.
PMID: 38485094
Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and...
7.
Panagiotakaki E, Tiziano F, Mikati M, Vijfhuizen L, Nicole S, Lesca G, et al.
Eur J Hum Genet
. 2023 Dec;
32(2):224-231.
PMID: 38097767
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. Over 85% of individuals with AHC...
8.
Vanoye C, Abramova T, DeKeyser J, Ghabra N, Oudin M, Burge C, et al.
bioRxiv
. 2023 Nov;
PMID: 38014225
Pathogenic variants in , which encodes the voltage-gated sodium (Na ) channel Na 1.6, are associated with neurodevelopmental disorders including epileptic encephalopathy. Previous approaches to determine variant function may be...
9.
Thompson C, Potet F, Abramova T, DeKeyser J, Ghabra N, Vanoye C, et al.
J Gen Physiol
. 2023 Aug;
155(10).
PMID: 37578743
Pathogenic variants in voltage-gated sodium (NaV) channel genes including SCN2A, encoding NaV1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for...
10.
Pablo J, Cornett S, Wang L, Jo S, Brunger T, Budnik N, et al.
Cell Rep
. 2023 Jun;
42(6):112563.
PMID: 37267104
It is challenging to apply traditional mutational scanning to voltage-gated sodium channels (Nas) and functionally annotate the large number of coding variants in these genes. Using a cytosine base editor...