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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T. de Boer E, et al. Among authors: devinsky o. Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1. Genet Med. 2023. PMID: 37658852 Free article. No abstract available.
Tribute to Steven Schachter, MD.
Devinsky O. Devinsky O. Epilepsy Behav. 2022 Dec;137(Pt B):108706. doi: 10.1016/j.yebeh.2022.108706. Epub 2022 Nov 30. Epilepsy Behav. 2022. PMID: 36463058 No abstract available.
Cannabinoid treatments in epilepsy and seizure disorders.
Devinsky O, Jones NA, Cunningham MO, Jayasekera BAP, Devore S, Whalley BJ. Devinsky O, et al. Physiol Rev. 2024 Apr 1;104(2):591-649. doi: 10.1152/physrev.00049.2021. Epub 2023 Oct 26. Physiol Rev. 2024. PMID: 37882730 Review.
Ictal ECG-based assessment of sudden unexpected death in epilepsy.
Gravitis AC, Tufa U, Zukotynski K, Streiner DL, Friedman D, Laze J, Chinvarun Y, Devinsky O, Wennberg R, Carlen PL, Bardakjian BL. Gravitis AC, et al. Among authors: devinsky o. Front Neurol. 2023 Mar 13;14:1147576. doi: 10.3389/fneur.2023.1147576. eCollection 2023. Front Neurol. 2023. PMID: 36994379 Free PMC article.
Michael Duchowny: Mentor and mensch.
Devinsky O. Devinsky O. Epilepsy Behav. 2024 Mar;152:109544. doi: 10.1016/j.yebeh.2023.109544. Epub 2023 Dec 2. Epilepsy Behav. 2024. PMID: 38044172 No abstract available.
A left-lateralized dorsolateral prefrontal network for naming.
Yu L, Dugan P, Doyle W, Devinsky O, Friedman D, Flinker A. Yu L, et al. Among authors: devinsky o. bioRxiv [Preprint]. 2024 May 15:2024.05.15.594403. doi: 10.1101/2024.05.15.594403. bioRxiv. 2024. PMID: 38798614 Free PMC article. Preprint.
812 results