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In Memoriam Arthur J. Atkinson, Jr. (1938-2024).
Lertora JJL, Huang SM, George AL Jr. Lertora JJL, et al. Among authors: george al jr. Clin Pharmacol Ther. 2024 May 13. doi: 10.1002/cpt.3300. Online ahead of print. Clin Pharmacol Ther. 2024. PMID: 38738765 No abstract available.
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
Abreo TJ, Thompson EC, Madabushi A, Soh H, Varghese N, Vanoye CG, Springer K, Park KL, Johnson J, Sims S, Ji Z, Chavez AG, Jankovic MJ, Habte B, Zuberi A, Lutz C, Wang Z, Krishnan V, Dudler L, Einsele-Scholz S, Noebels JL, George AL Jr, Maheshwari A, Tzingounis AV, Cooper EC. Abreo TJ, et al. Among authors: george al jr. bioRxiv [Preprint]. 2024 Feb 8:2024.01.04.574177. doi: 10.1101/2024.01.04.574177. bioRxiv. 2024. PMID: 38260608 Free PMC article. Preprint.
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Karthik F, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Faulkner M, MacLeod HM, Burns KM, Yandell M, Tristani-Firouzi M, George AL Jr, McNally EM. Puckelwartz MJ, et al. Among authors: george al jr. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: george al jr. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
355 results