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Recent Publications

  • Dravet Syndrome
    • Hawkins NA, Speakes N, Kearney JA (2024) Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8. Mamm Genome. 2024 Jun 11. doi: https://doi.org/10.1007/s00335-024-10046-3. 
    • Zhou C, Satpute V,  Yip KL, Anderson LL, Hawkins NA, Kearney JA, Arnold JC (2024) A high seizure burden increases several prostaglandin species in the hippocampus of a Scn1a+/- mouse model of Dravet syndrome. Prostaglandins Other Lipid Mediat. 172:106836. doi: https://doi.org/10.1016/j.prostaglandins.2024.106836.
    • Tanenhaus A, Stowe T, Young A, McLaughlin J, Aeran R, Lin IW, Li J, Hosur R, Chen M, Leedy J, Chou T, Pillay S, Vila MC, Kearney JA, Moorhead M, Belle A, Tagliatela S. (2022) Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model and Is Well Tolerated in Nonhuman Primates. Hum Gene Ther.  33(11-12):579-597. doi: https://doi.org/10.1089/hum.2022.037.
    • Kearney JA, Copeland-Hardin LD, Duarte S, Zachwieja NA, Eckart-Frank IK, Hawkins NA (2022) Fine mapping and candidate gene analysis of a Dravet syndrome modifier locus on mouse chromosome 11. Mamm Genome. 33(4):565-574. doi: https://doi.org/10.1007/s00335-022-09955-y.
    • Hawkins NA, Jurado M, Thaxton TT, Duarte SE, Barse L, Tatsukawa T, Yamakawa K, Nishi T, Kondo S, Miyamoto M, Abrahams BS, During MJ, Kearney JA (2021) Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice. Epilepsia. 62(11):2845-2857. doi: https://doi.org/doi:10.1111/epi.17062.
    • Hawkins NA, Nomura T, Duarte S, Barse L, Williams RW, Homanics GE, Mulligan MK, Contractor A, Kearney JA (2021) Gabra2 is a genetic modifier of Dravet syndrome in mice. Mamm Genome. 32:350-363. doi: https://doi.org/10.1007/s00335-021-09877-1.
    • Nomura T, Hawkins NA, Kearney JA, George AL, Contractor A (2019) Potentiating a2 subunit containing perisomatic GABAA receptors protects against seizures in a mouse model of Dravet syndrome. Journal of Physiology. 2019 Jan; 597(16): 4293-4307. doi: https://doi.org/doi: 10.1113/JP277651.

 

  • KCNB1-Associated Epilepsy
    • Kang SK, Hawkins NA, Thompson CH, Baker EM, Echevarria-Cooper DM, Barse L, Thenstedt T, Dixon CJ, Speakes N, George AL Jr, Kearney JA (2024) Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant. Neurobiol Dis. 12:106470. doi: https://doi.org/10.1016/j.nbd.2024.106470
    • Hawkins NA, Misra SN, Jurado M, Kang SK, Vierra NC, Nguyen K, Wren L, George AL Jr, Trimmer JS, Kearney JA (2021) Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant. Neurobiol Dis. 147:105141. doi: https://doi.org/10.1016/j.nbd.2020.105141.
    • 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, Kearney JA (2019) Spectrum of KV2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders. Annals of Neurology. 86(6): 899-912. doi: https://doi.org/10.1002/ana.25607

 

  • SCN2A-Associated Epilepsy
    • Echevarria-Cooper DM, Kearney JA. (2023) Evaluating the interplay between estrous cyclicity and flurothyl-induced seizure susceptibility in Scn2a-K1422E mice. MicroPubl Biol. doi: https://doi.org/10.17912/micropub.biology.000850.
    • Echevarria-Cooper DM, Hawkins NA, Misra SN, Huffman AM, Thaxton T, Thompson CH, Ben-Shalom R, Nelson AD, Lipkin AM, George AL, Bender KJ, Kearney JA (2022) Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Hum Mol Genet. 31(17):2964-88. doi: https://doi.org/10.1093/hmg/ddac087.
    • Echevarria-Cooper DM, Hawkins NA, Kearney JA (2023) Strain-dependent effects on neurobehavioral and seizure phenotypes in Scn2aK1422E mice. bioRxiv 2023.06.06.543929; doi: https://doi.org/10.1101/2023.06.06.543929 [Preprint]

 

  • Related Publications
    • Barker-Haliski M, DePaula-Silva AB, Pitsch J, Hirsch LJ, Galanopoulou AS, Kearney JA (2024) Brain on Fire: How Brain Infection and Neuroinflammation Drive Worldwide Epilepsy Burden. Epilepsy Curr. 2024;0(0). doi: https://doi.org/10.1177/15357597241242238
    • Wren LM, DeKeyser JM, Barefield DY, Hawkins NA, McNally EM, Kearney JA, Wasserstrom JA, George AL Jr. (2023) Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy. Circ Arrhythm Electrophysiol. 16(9):e010891. https://doi.org/doi: 10.1161/CIRCEP.122.010891.
    • 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. (2023) Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub. Nat Commun. 14(1):825. https://doi.org/doi:10.1038/s41467-023-36087-x
    • Gertler TS, Cherian S, DeKeyser JM, Kearney JA, George AL Jr. (2022) K Na 1.1 gain-of-function preferentially dampens excitability of murine parvalbumin-positive interneurons. Neurobiol Dis. 168:105713. https://doi.org/doi:10.1016/j.nbd.2022.105713.
    • Zaman,T; Helbig,KL; Clatot,J; Thompson,CH; Kang,SK; Stouffs,K; Jansen,AE; Verstraete,L; Jacquinet,A; Parrini,E; Guerrini,R; Fujiwara,Y; Miyatake,S; Ben-Zeev,B; Bassan,H; Reish,O; Marom,D; Hauser,N; Vu,TA; Ackermann,S; Spencer,CE; Lippa,N; Srinivasan,S; Charzewska,A; Hoffman-Zacharska,D; Fitzpatrick,D; Harrison,V; Vasudevan,P; Joss,S; Pilz,DT; Fawcett,KA; Helbig,I; Matsumoto,N; Kearney,JA; Fry,AE; Goldberg,EM (2020) SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation. Annals of Neurology. 88(2): 348-362. https://doi.org/doi:10.1002/ana.25809
    • Calhoun,JD; Huffman,AM; Bellinski,I; Kinsley,L; Bachman,E; Gerard,E; Kearney,JA; Carvill,GL (2020) CACNA1H variants are not a cause of monogenic epilepsy. Human Mutation. 41(6): 1138-1144. https://doi.org/doi:10.1002/humu.24017
    • Jones,JE; Asato,MR; Brown,MG; Doss,JL; Felton,EA; Kearney,JA; Talos,D; Dacks,PA; Whittemore,V; Poduri,A (2020) Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span. Epilepsy Currents. 20(1_suppl): 31S-39S. https://doi.org/doi:10.1177/1535759719895277

 

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