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Page 1
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.
Forrest MP, Dos Santos M, Piguel NH, Wang YZ, Hawkins NA, Bagchi VA, Dionisio LE, Yoon S, Simkin D, Martin-de-Saavedra MD, Gao R, Horan KE, George AL Jr, LeDoux MS, Kearney JA, Savas JN, Penzes P. Forrest MP, et al. Nat Commun. 2023 Feb 17;14(1):825. doi: 10.1038/s41467-023-36087-x. Nat Commun. 2023. PMID: 36808153 Free PMC article.
Gabra2 is a genetic modifier of Dravet syndrome in mice.
Hawkins NA, Nomura T, Duarte S, Barse L, Williams RW, Homanics GE, Mulligan MK, Contractor A, Kearney JA. Hawkins NA, et al. Mamm Genome. 2021 Oct;32(5):350-363. doi: 10.1007/s00335-021-09877-1. Epub 2021 Jun 4. Mamm Genome. 2021. PMID: 34086081 Free PMC article.
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL. Calhoun JD, et al. Hum Mutat. 2020 Jun;41(6):1138-1144. doi: 10.1002/humu.24017. Epub 2020 Apr 14. Hum Mutat. 2020. PMID: 32227660 Free PMC article.
19 results