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Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.
J Gen Physiol. 2023 Oct 2;155(10):e202313375. doi: 10.1085/jgp.202313375. Epub 2023 Aug 14.
J Gen Physiol. 2023.
PMID: 37578743
Free PMC article.
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG, Desai RR, Ji Z, Adusumilli S, Jairam N, Ghabra N, Joshi N, Fitch E, Helbig KL, McKnight D, Lindy AS, Zou F, Helbig I, Cooper EC, George AL Jr.
Vanoye CG, et al.
JCI Insight. 2022 Mar 8;7(5):e156314. doi: 10.1172/jci.insight.156314.
JCI Insight. 2022.
PMID: 35104249
Free PMC article.
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Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG, Abramova TV, DeKeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL.
Vanoye CG, et al. Among authors: ghabra nf.
bioRxiv [Preprint]. 2023 Nov 13:2023.11.11.566702. doi: 10.1101/2023.11.11.566702.
bioRxiv. 2023.
PMID: 38014225
Free PMC article.
Preprint.
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Epilepsy-associated SCN2A (Na V 1.2) Variants Exhibit Diverse and Complex Functional Properties.
Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap J, George AL Jr.
Thompson CH, et al. Among authors: ghabra nf.
bioRxiv [Preprint]. 2023 Feb 23:2023.02.23.529757. doi: 10.1101/2023.02.23.529757.
bioRxiv. 2023.
PMID: 36865317
Free PMC article.
Updated.
Preprint.
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