Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 2 |
2023 | 1 |
2024 | 2 |
Search Results
4 results
Results by year
Filters applied: . Clear all
Page 1
Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
Cell Rep Med. 2024 Feb 20;5(2):101389. doi: 10.1016/j.xcrm.2023.101389. Epub 2024 Jan 23.
Cell Rep Med. 2024.
PMID: 38266642
Free PMC article.
A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction.
Clatot J, Currin CB, Liang Q, Pipatpolkai T, Massey SL, Helbig I, Delemotte L, Vogels TP, Covarrubias M, Goldberg EM.
Clatot J, et al.
Proc Natl Acad Sci U S A. 2024 Jan 16;121(3):e2307776121. doi: 10.1073/pnas.2307776121. Epub 2024 Jan 9.
Proc Natl Acad Sci U S A. 2024.
PMID: 38194456
Item in Clipboard
A KCNC1-related neurological disorder due to gain of Kv3.1 function.
Clatot J, Ginn N, Costain G, Goldberg EM.
Clatot J, et al.
Ann Clin Transl Neurol. 2023 Jan;10(1):111-117. doi: 10.1002/acn3.51707. Epub 2022 Nov 23.
Ann Clin Transl Neurol. 2023.
PMID: 36419348
Free PMC article.
Item in Clipboard
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Schwarz N, Seiffert S, Pendziwiat M, Rademacher AV, Brünger T, Hedrich UBS, Augustijn PB, Baier H, Bayat A, Bisulli F, Buono RJ, Bruria BZ, Doyle MG, Guerrini R, Heimer G, Iacomino M, Kearney H, Klein KM, Kousiappa I, Kunz WS, Lerche H, Licchetta L, Lohmann E, Minardi R, McDonald M, Montgomery S, Mulahasanovic L, Oegema R, Ortal B, Papacostas SS, Ragona F, Granata T, Reif PS, Rosenow F, Rothschild A, Scudieri P, Striano P, Tinuper P, Tanteles GA, Vetro A, Zahnert F, Goldberg EM, Zara F, Lal D, May P, Muhle H, Helbig I, Weber Y.
Schwarz N, et al.
Neurology. 2022 May 17;98(20):e2046-e2059. doi: 10.1212/WNL.0000000000200660. Epub 2022 Mar 21.
Neurology. 2022.
PMID: 35314505
Free PMC article.
Item in Clipboard
Cite
Cite