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Page 1
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
RNA-based translation activators for targeted gene upregulation.
Cao Y, Liu H, Lu SS, Jones KA, Govind AP, Jeyifous O, Simmons CQ, Tabatabaei N, Green WN, Holder JL Jr, Tahmasebi S, George AL Jr, Dickinson BC. Cao Y, et al. Among authors: george al jr. Nat Commun. 2023 Oct 26;14(1):6827. doi: 10.1038/s41467-023-42252-z. Nat Commun. 2023. PMID: 37884512 Free PMC article.
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB, Cornett SL, Wang LA, Jo S, Brünger T, Budnik N, Hegde M, DeKeyser JM, Thompson CH, Doench JG, Lal D, George AL Jr, Pan JQ. Pablo JLB, et al. Among authors: george al jr. Cell Rep. 2023 Jun 27;42(6):112563. doi: 10.1016/j.celrep.2023.112563. Epub 2023 Jun 1. Cell Rep. 2023. PMID: 37267104 Free PMC article.
350 results