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Gene expression profiling in a mouse model of Dravet syndrome.
Hawkins NA, Calhoun JD, Huffman AM, Kearney JA. Hawkins NA, et al. Among authors: calhoun jd. Exp Neurol. 2019 Jan;311:247-256. doi: 10.1016/j.expneurol.2018.10.010. Epub 2018 Oct 19. Exp Neurol. 2019. PMID: 30347190 Free PMC article.
SCN3A deficiency associated with increased seizure susceptibility.
Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA. Lamar T, et al. Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22. Neurobiol Dis. 2017. PMID: 28235671 Free PMC article.
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Among authors: calhoun jd. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 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.
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. Calhoun JD, et al. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Brain. 2022. PMID: 35773235 Free PMC article.
40 results